Congenital Cataract Nephropathy Encephalopathy Syndrome

Another names
Types
Causes
Symptoms
Diagnostic tests
Non-pharmacological treatments
Drug treatments
Dietary molecular supplements
Immunity-, regenerative-, and stem-cell-related drugs
Surgeries
Preventions
When to see doctors (or seek urgent help)
What to eat and what to avoid
FAQs

Congenital cataract, nephropathy, encephalopathy syndrome (often called Crome syndrome) is an extremely rare genetic disease in which a baby is born with three major problems at the same time: cataracts in both eyes, serious kidney damage, and brain dysfunction (encephalopathy). The main features described in the medical literature are short stature, congenital cataracts, seizures, intellectual disability, and kidney injury due to renal tubular necrosis. Most reported babies sadly died in early infancy, usually within a few months of life. Genetic Diseases Info Center+2DoveMed+2

Congenital cataract, nephropathy, encephalopathy syndrome is a very rare genetic disease that affects the eyes, kidneys, and brain of a baby from birth. It is also called Crome syndrome or cataract–nephropathy–encephalopathy syndrome. Babies have cloudy lenses in both eyes (congenital cataracts), severe brain dysfunction with seizures (encephalopathy), and serious kidney damage (nephropathy), usually due to renal tubular necrosis. DoveMed+4Genetic Diseases Info Center+4orpha.net+4

Only two infant girls in a consanguineous family have been clearly described in the medical literature, and both died in early infancy (around 4–8 months of age). Because it is so rare and severe, there is no specific curative treatment. Care is supportive and aims to control seizures, protect kidney function, support breathing, and comfort the baby and family. Much of what we know comes from experience with other syndromes where congenital cataracts occur together with kidney and brain disease. nature.com+3NCBI+3DoveMed+3

This syndrome is thought to be a genetic condition passed in an autosomal recessive pattern, which means a child must inherit two faulty copies of a gene, one from each parent. However, no specific causative gene has been confirmed, and only a very small number of cases (two affected sisters from a first-cousin marriage) have been clearly described. Because of this, most of what we know comes from general knowledge about congenital cataracts, kidney tubular disease, and neonatal encephalopathy, combined with those early case reports. Genetic Diseases Info Center+2MalaCards+2

In this syndrome, the lens of the eye becomes cloudy very early (congenital cataract), which blocks light from reaching the retina and quickly damages visual development. The kidneys show tubular damage and dysfunction (similar to acute tubular necrosis), leading to problems with fluid balance, salts, and acid–base control. The brain is affected by structural abnormalities and metabolic stress, causing encephalopathy with seizures, poor muscle tone, and delayed development. Together, these eye, kidney, and brain problems make the condition severe and usually lethal in early life. IJPediatrics+3DoveMed+3MalaCards+3

Another names

This disorder is best known as Crome syndrome, after the author of the original case report. Other names used in major rare-disease databases include cataract-nephropathy-encephalopathy syndrome, congenital cataract, nephropathy, encephalopathy syndrome, and similar combinations of these words. These names all describe the same triad of eye (cataract), kidney (nephropathy), and brain (encephalopathy) disease and are treated as synonyms for the same condition in resources such as GARD, Orphanet, and MalaCards. Genetic Diseases Info Center+2DoveMed+2

Types

Because so few children with this syndrome have been described, there is no official medical classification into subtypes, and large series do not exist. However, for understanding and teaching, clinicians may think of three practical “types” based on which organ seems most affected, while remembering that all three organs are involved to some degree. MalaCards+1

One conceptual type is an eye-dominant pattern, where cataracts and visual signs are noticed first. Parents or doctors may see a white pupil, poor eye contact, or early nystagmus (involuntary eye movements), and detailed work-up then reveals associated kidney and brain disease. This pattern reflects how congenital cataracts are often visually obvious and frequently prompt the first medical evaluation in infants. imo.es+2EyeWiki+2

A second conceptual type is a kidney-dominant pattern, where the baby mainly presents with signs of kidney failure or renal tubular dysfunction, such as poor growth, polyuria, dehydration, or metabolic acidosis; eye and brain findings may be documented only after nephrology evaluation. This parallels how renal tubular disorders in children often present first with failure to thrive and electrolyte problems, which then trigger broader investigation. SpringerLink+2Indian Journal of Nephrology+2

A third conceptual type is a brain-dominant pattern, where encephalopathy and seizures are the most striking early features. In these infants, reduced consciousness, abnormal tone, feeding difficulty, and frequent seizures drive urgent neurologic assessment, and only later do ophthalmologic and kidney evaluations reveal cataracts and nephropathy as part of a single genetic syndrome. This pattern mirrors other genetic neonatal encephalopathies in which hypotonia, feeding problems, and seizures are early key signs. Ovid+3Genetic Diseases Info Center+3MalaCards+3

Causes

The core cause of congenital cataract, nephropathy, encephalopathy syndrome is a genetic mutation inherited in an autosomal recessive manner, but the exact gene has not been defined. The list below describes 20 related mechanisms and contributing factors that help explain how the disease arises and how it affects the body, while keeping in mind that all are linked to the same rare underlying genetic error. Genetic Diseases Info Center+2MalaCards+2

Autosomal recessive genetic mutation
The main cause is a mutation in a gene important for normal development of the eyes, kidneys, and brain. Because the disease is autosomal recessive, the baby must receive one mutated copy from each carrier parent. The mutation likely disrupts proteins that are needed in all three organs, which explains the combined cataract-nephropathy-encephalopathy picture. Genetic Diseases Info Center+2MalaCards+2
Parental carrier status
The parents of an affected child are usually healthy carriers who each carry one copy of the mutated gene but do not show symptoms. When two carriers have a child, there is about a 25% chance that the child inherits both mutated copies and is affected, which is the classic autosomal recessive risk pattern. Genetic Diseases Info Center+1
Consanguinity (close-relative marriage)
In the original report, both affected girls were born to first-cousin parents. When parents are closely related, they are more likely to carry the same rare mutation, which increases the chance of autosomal recessive diseases such as this syndrome in their children. DoveMed+1
Disrupted lens protein formation
Genetic errors can disturb the normal arrangement of lens fibers and crystallin proteins, leading to clouding of the lens at or soon after birth (congenital cataract). When the lens is cloudy, light cannot pass properly to the retina, causing severe visual deprivation in early life. imo.es+2EyeWiki+2
Abnormal kidney tubular development
The same genetic problem appears to damage kidney tubule cells, resulting in nephropathy with tubular necrosis and impaired reabsorption of water and solutes. This causes renal tubular dysfunction, which is a hallmark of the syndrome and can progress to acute kidney injury in infants. PubMed Central+3DoveMed+3MalaCards+3
Neonatal vulnerability of the kidney
Newborn kidneys are particularly sensitive to low blood flow, toxins, and metabolic stress, which can worsen any underlying genetic tubular abnormality. Prolonged poor perfusion can turn a mild tubular defect into full acute tubular necrosis, further damaging kidney function. Barraquer Ophthalmology Center+2MDPI+2
Brain maldevelopment and cerebellar dysplasia
The genetic mutation also affects brain development, leading to structural problems such as cerebellar dysplasia and global encephalopathy. These abnormalities disturb brain circuits that control consciousness, movement, and coordination, which helps explain seizures and developmental delay. DoveMed+2MalaCards+2
Seizure susceptibility in the immature brain
The neonatal brain is highly excitable, and when it is structurally or metabolically abnormal, seizures are more likely to occur. In this syndrome, brain malformations, electrolyte disturbances from kidney failure, and metabolic stress together lower the seizure threshold. MalaCards+2nature.com+2
Microcephaly and reduced brain growth
Some descriptions note microcephaly, which means a head size smaller than expected for age. Microcephaly reflects reduced brain growth and is usually a visible sign of a long-standing developmental brain problem, adding to the severity of intellectual disability. MalaCards+2Genetic Diseases Info Center+2
Global developmental delay from multi-organ disease
Combined eye, kidney, and brain disease in early infancy makes normal development very difficult. Visual deprivation from cataracts, repeated seizures, metabolic problems, and frequent hospitalizations together slow or halt milestones such as head control, sitting, and early communication. Genetic Diseases Info Center+2MalaCards+2
Metabolic acidosis from renal tubular dysfunction
When kidney tubules cannot properly reabsorb bicarbonate or excrete acid, the baby develops metabolic acidosis. Acidosis itself can cause rapid breathing, poor feeding, and irritability, and it can worsen brain function in an already fragile neonate. PubMed+2SpringerLink+2
Electrolyte disturbances (e.g., potassium and sodium)
Dysfunctional tubules lead to abnormal loss or retention of electrolytes such as sodium and potassium. Imbalances may manifest as weakness, arrhythmias, lethargy, and even seizures, which can further aggravate encephalopathy and overall clinical instability. PubMed+2Cleveland Clinic+2
Failure to thrive due to chronic illness
Babies with this syndrome often have feeding problems, repeated illness, and increased metabolic demands. Chronic kidney disease and encephalopathy make it hard to gain weight and length, which contributes to the short stature described in the condition. Cleveland Clinic+3Genetic Diseases Info Center+3MalaCards+3
Spontaneous (de novo) genetic mutations
In some rare diseases, the mutation arises for the first time in the child (de novo) rather than being inherited from a carrier parent. GARD notes that disease-causing mutations may be hereditary or may occur randomly when cells divide, and such de novo events are a plausible mechanism here as well. Genetic Diseases Info Center+1
Environmental factors that damage DNA in parents
Environmental exposures such as radiation, certain chemicals, and some viral infections can create DNA damage in parental germ cells. Over time, this damage may lead to new mutations that can be passed to offspring, although no specific environmental trigger has been proven for this particular syndrome. Genetic Diseases Info Center+1
Perinatal hypoxia and systemic stress on a fragile kidney
Babies with genetic tubular vulnerability may tolerate perinatal stress poorly. Episodes of low oxygen or low blood pressure around birth can further reduce kidney perfusion and accelerate tubular necrosis, making nephropathy more severe and less reversible. Barraquer Ophthalmology Center+2nature.com+2
Overlap with broader genetic renal–cerebral syndromes
The pattern of eye, kidney, and brain involvement resembles other rare oculo-renal or neuro-renal syndromes, supporting the idea that a shared developmental pathway is disturbed. This conceptual overlap helps clinicians suspect a single unifying genetic cause when they see this triad in a newborn. MalaCards+2nature.com+2
Lack of early diagnosis due to extreme rarity
Because the syndrome is so rare and not widely recognized, diagnosis may be delayed or missed. Without timely recognition, supportive care may focus on individual organ problems rather than the combined syndrome, which can limit opportunities for optimized management and genetic counselling. Genetic Diseases Info Center+2MalaCards+2
Limited treatment options for underlying cause
At present, there is no cure for the genetic defect itself, only supportive management of symptoms. This lack of disease-specific therapy means that the underlying pathologic processes in eyes, kidneys, and brain continue, which contributes to the poor overall prognosis. DoveMed+2MalaCards+2
Recurrent infections and complications from organ failure
Severe kidney and neurological disease make infants more vulnerable to infections, dehydration, and respiratory problems. Each complication adds further stress to already damaged organs, accelerating decline and contributing to the early lethality described in most reports. DoveMed+2MDPI+2

Symptoms

Congenital cataracts (cloudy lenses at birth)
Cataracts are opacities in the eye’s natural lens that are present at or shortly after birth. In this syndrome they are usually bilateral and severe, blocking light from reaching the retina and causing early, profound visual impairment. Without very early surgery and visual rehabilitation, congenital cataracts often lead to permanent poor vision. nature.com+3Genetic Diseases Info Center+3MalaCards+3
Poor visual tracking and lack of eye contact
Because the baby cannot see clearly through the cloudy lenses, they may not follow faces or objects and may appear to avoid eye contact. These signs are typical of significant visual deprivation in infants with dense congenital cataracts and help prompt early eye examination. EyeWiki+2Cureus+2
Nystagmus (involuntary eye movements)
Many children with bilateral congenital cataracts develop nystagmus, where the eyes move back and forth uncontrollably. Nystagmus is common in infants with severe visual deprivation and is often considered a marker of more serious and long-standing cataract-related vision loss. Medscape+3DoveMed+3MalaCards+3
Short stature and poor growth
Short stature is a core feature of the syndrome and reflects both genetic effects on growth and chronic illness from kidney and brain disease. Failure to thrive, reduced weight gain, and lagging length or height measurements are common in children with chronic renal tubular dysfunction and severe neurological disease. Genetic Diseases Info Center+2MalaCards+2
Seizures (epileptic fits)
Recurrent seizures are central to the encephalopathy component of the syndrome. In newborns, seizures may appear as jerking, stiffening, eye deviation, or subtle movements. They result from structural brain abnormalities and metabolic problems and are often difficult to control. E-CEP+3Genetic Diseases Info Center+3MalaCards+3
Encephalopathy (altered consciousness and behavior)
Encephalopathy means that the brain is not functioning normally. In affected infants, this may show as excessive sleepiness, reduced responsiveness, weak or abnormal crying, and episodes of apnea or irregular breathing. The combination of genetic brain malformation and metabolic stress from kidney failure underlies this state. Cleveland Clinic+3DoveMed+3MalaCards+3
Intellectual disability and global developmental delay
Survivors beyond the neonatal period are expected to have significant delays in milestones and lasting intellectual disability. Problems with visual input, seizures, and abnormal brain structure limit learning, speech, and motor development. This is consistent with the intellectual disability and severe developmental delay recorded among the syndrome’s phenotypes. Genetic Diseases Info Center+2MalaCards+2
Hypotonia (floppy muscle tone)
Many genetic neonatal encephalopathies cause low muscle tone, and hypotonia is likely in babies with this syndrome. A hypotonic infant feels “floppy” when held and may have difficulty maintaining posture, feeding, and breathing, which are typical consequences of early brain dysfunction. ScienceDirect+2Cleveland Clinic+2
Feeding difficulties
Babies with encephalopathy, hypotonia, and kidney disease often have trouble coordinating sucking and swallowing, leading to poor feeding, choking, or vomiting. Persistent feeding difficulty contributes to failure to thrive and may require tube feeding for adequate nutrition. ScienceDirect+2Cleveland Clinic+2
Renal tubular dysfunction (polyuria or abnormal urine findings)
Renal tubular dysfunction is a hallmark feature and may show as excessive urine output (polyuria), dehydration, poor weight gain, and abnormal loss of salts and bicarbonate in urine. Laboratory tests often reveal evidence of tubular damage even when structural imaging looks normal. PubMed+3Genetic Diseases Info Center+3MalaCards+3
Oliguria or anuria in acute kidney failure
When tubular necrosis becomes severe, urine output may drop markedly (oliguria) or stop (anuria). Low urine output is a key sign of acute kidney injury in children and is associated with serious electrolyte imbalances and fluid overload, which further endanger the infant. Barraquer Ophthalmology Center+2Geeky Medics+2
Electrolyte and acid–base symptoms
Children with tubular dysfunction and acute kidney injury can develop symptoms related to disturbed electrolytes and acidosis, including vomiting, lethargy, rapid breathing, and, in severe cases, confusion or seizures. These problems are common across pediatric acute kidney injuries and are expected in this syndrome as well. PubMed+2MDPI+2
Microcephaly (small head size)
Some phenotype summaries mention microcephaly, which indicates reduced brain growth. It is often associated with more severe developmental impairment and supports the presence of a longstanding prenatal brain developmental problem. MalaCards+2nature.com+2
Failure to thrive (poor weight and length gain)
Beyond simple short stature, many affected infants fail to gain weight or grow at the expected rate. This reflects the combined impact of feeding difficulties, chronic kidney disease, metabolic acidosis, and recurrent illness, all of which are typical in severe renal tubular disorders. Indian Journal of Nephrology+3Genetic Diseases Info Center+3MalaCards+3
Early death in infancy
In the original description, both affected sisters died within 4–8 months of life, and modern summaries describe the syndrome as “lethal” with no further well-documented long-term survivors. Early death is usually due to the combined burden of severe kidney failure, refractory seizures, infections, and respiratory complications. nature.com+3DoveMed+3MalaCards+3

Diagnostic tests

Because this is an ultra-rare condition with very few historical cases, modern diagnosis relies on a systematic evaluation of eye, kidney, and brain using standard tools from neonatal ophthalmology, nephrology, and neurology. The following 20 tests illustrate a comprehensive diagnostic approach.

General newborn physical examination (growth and head size)
A detailed physical exam with measurement of weight, length, and head circumference can reveal short stature and microcephaly, which are key clues to a syndromic disorder. Careful inspection of the eyes, skin, and body proportions helps the clinician recognize that multiple systems are involved. Genetic Diseases Info Center+2MalaCards+2
Neurologic examination (tone, reflexes, consciousness)
Bedside neurologic assessment checks muscle tone, primitive reflexes, level of alertness, and response to stimuli. Findings such as hypotonia, poor suck, abnormal reflexes, or reduced responsiveness support the diagnosis of neonatal encephalopathy, which is a central part of this syndrome. Cleveland Clinic+2nature.com+2
Basic eye examination with red reflex test
Pediatric providers often use an ophthalmoscope to check the “red reflex” from the back of the eye. An absent or white reflex indicates a media opacity such as congenital cataract and triggers urgent referral to an ophthalmologist for more detailed evaluation. Cureus+2PubMed Central+2
Clinical assessment of hydration, edema, and urine output
On physical examination, doctors look for signs of dehydration (sunken eyes, dry mucosa), fluid overload (edema, enlarged liver), and changes in urine output. These findings are common in acute kidney injury and renal tubular disorders in children and help raise suspicion of nephropathy when seen with cataracts and encephalopathy. Barraquer Ophthalmology Center+2MDPI+2
Hand-held slit-lamp examination of the lens
An ophthalmologist uses a specialized microscope (slit lamp), often in a portable form for infants, to directly visualize the lens and confirm the presence, location, and pattern of cataracts. This exam is the gold standard for characterizing congenital cataracts and planning any potential surgical intervention. EyeWiki+2AAO+2
Dilated fundus examination
After dilating the pupils, the ophthalmologist examines the retina and optic nerve to rule out additional eye problems such as retinal detachment, persistent fetal vasculature, or optic atrophy. This helps determine whether visual impairment is only from the cataract or part of a broader ocular malformation pattern. EyeWiki+2EyeWiki+2
Standardized encephalopathy or neurologic scoring (e.g., Thompson score)
Simple bedside scoring systems for neonatal encephalopathy grade the severity of neurologic signs such as tone, reflexes, and conscious level. These tools, used in many neonatal encephalopathy studies, allow clinicians to follow changes over time and support the diagnosis of a serious brain disorder. The Lancet+1
Developmental and feeding assessment
Clinicians review early milestones (eye contact, social smile, head control) and feeding patterns (suck, swallow, weight gain). Persistent feeding difficulty and delayed milestones in a newborn with cataracts and kidney disease strengthen the suspicion of a syndromic encephalopathy rather than isolated eye disease. Cleveland Clinic+2SpringerLink+2
Serum creatinine and blood urea nitrogen (BUN)
Blood tests for creatinine and BUN evaluate kidney filtration. Elevated values suggest reduced glomerular filtration rate and acute kidney injury, which is often present when renal tubular necrosis and nephropathy are part of the syndrome. MDPI+2Stanford Medicine+2
Serum electrolytes and acid–base profile
Measuring sodium, potassium, bicarbonate, and blood pH helps detect metabolic acidosis and electrolyte abnormalities due to tubular dysfunction. Hypokalemia, metabolic acidosis, or other disturbances are typical markers of renal tubular disease in children and guide acute management. PubMed+2SpringerLink+2
Urinalysis with microscopy
Routine urine testing checks for protein, glucose, amino acids, and other substances that should normally be reabsorbed by the tubules. Abnormal urinary loss of these substances is characteristic of renal tubular dysfunction and helps confirm the kidney component of the syndrome. PubMed+2orpha.net+2
Monitoring of urine volume (ml/kg/hour)
Careful recording of urine output allows doctors to detect polyuria in tubular disorders or oliguria/anuria in advanced acute kidney injury. Thresholds for low urine output are standard in pediatric acute kidney injury definitions and are important in assessing severity. Barraquer Ophthalmology Center+2MDPI+2
Genetic testing (e.g., exome sequencing)
Once the triad of congenital cataracts, nephropathy, and encephalopathy is recognized, broad genetic testing such as exome sequencing can be used to search for an underlying mutation. Although no single causative gene for this syndrome is currently established, modern genetic testing is essential for clarifying etiology in rare neonatal neuro-renal disorders. Genetic Diseases Info Center+2MalaCards+2
Metabolic screening (amino acids, organic acids, ammonia)
Laboratory panels for metabolic disorders help rule out other inborn errors of metabolism that can cause neonatal encephalopathy and seizures, such as urea cycle defects or organic acidemias. A negative metabolic screen in the presence of the classic triad supports a structural genetic syndrome like this one rather than a primary metabolic disease. ScienceDirect+2IJPediatrics+2
Blood counts and inflammatory markers
Complete blood count and markers such as C-reactive protein help identify or exclude infection as a cause of encephalopathy and kidney injury. This is important because sepsis and meningitis are common alternative explanations for seizures and renal dysfunction in newborns. nature.com+2MDPI+2
Kidney biopsy or post-mortem histology
In historical cases, nephropathy with acute tubular necrosis was confirmed only at post-mortem examination. Kidney biopsy or autopsy histology shows damage to tubular cells and supports the diagnosis of a structural tubulopathy rather than purely functional kidney failure. DoveMed+2MalaCards+2
Electroencephalography (EEG)
EEG records the electrical activity of the brain and is a key test for neonatal seizures and encephalopathy. It helps confirm the presence of electrographic seizures, assess background brain function, and guide treatment decisions. EEG is now considered essential in the evaluation of neonatal seizures. NCBI+2E-CEP+2
Video EEG monitoring (prolonged electrodiagnostic testing)
Continuous or prolonged EEG with video helps detect subtle or intermittent seizures that might be missed on short recordings. In severe neonatal encephalopathies, such monitoring provides a more complete picture of seizure burden and can influence prognosis and therapy. E-CEP+2International League Against Epilepsy+2
Brain MRI
Magnetic resonance imaging is the preferred modality for assessing neonatal encephalopathy and can show cerebellar dysplasia, white-matter injury, or other structural changes. MRI findings help confirm that seizures and developmental problems have a structural basis and may show patterns seen in other genetic neonatal brain disorders. PubMed+2IJPediatrics+2
Renal ultrasound
Ultrasound of the kidneys is a non-invasive imaging test widely used in children with acute kidney injury. It provides information about kidney size, structure, and blood flow and can help distinguish different causes of renal dysfunction. In this syndrome, ultrasound supports the nephropathy diagnosis and helps rule out obstructive causes. PubMed+2PubMed Central+2

Non-pharmacological treatments

Neonatal intensive care monitoring
Babies with this syndrome usually need care in a neonatal intensive care unit (NICU). Continuous monitoring of heart rate, breathing, oxygen level, blood pressure, and urine output helps doctors react quickly to seizures, breathing pauses, or kidney failure. Careful temperature control, gentle handling, and protection from bright light and loud noise improve comfort and may reduce stress on the brain and kidneys. PubMed Central+2SpringerLink+2
Airway and breathing support
Many affected babies have poor muscle tone and weak breathing. Non-drug support includes good positioning, gentle suctioning of secretions, and use of oxygen or mechanical ventilation when needed. The goal is to keep oxygen levels stable, because low oxygen worsens brain damage and kidney injury. Nurses and respiratory therapists adjust ventilator settings based on blood gas tests and clinical signs. PubMed Central+1
Careful fluid and electrolyte management
Because nephropathy and renal tubular necrosis are part of the syndrome, the kidneys cannot handle salt and water normally. Doctors and dietitians calculate precise fluid intake, often using intravenous fluids, and adjust sodium, potassium, and bicarbonate. The aim is to avoid both dehydration and fluid overload, which can damage the lungs and heart and worsen encephalopathy. PubMed Central+2Lippincott Journals+2
Early seizure recognition and first-aid education for parents
Even in hospital, nurses and parents are trained to recognize subtle seizures such as eye deviation, lip smacking, or rhythmic limb movements. They learn basic seizure first-aid: keep the baby on the side, protect the head, never put anything in the mouth, and call staff immediately. Good education reduces fear and helps faster treatment. FDA Access Data+2Sun Pharmaceutical Industries+2
Developmental care and physiotherapy
Although life expectancy is short, gentle physiotherapy and positioning can reduce joint stiffness, prevent contractures, and support more comfortable movement. Therapists focus on simple stretches, supported sitting when possible, and exercises that improve chest expansion. This care is adapted from evidence in other infants with chronic neurological and renal disease. PubMed Central+2MedlinePlus+2
Occupational therapy and feeding support
Babies with encephalopathy often have poor sucking and swallowing, which can lead to aspiration and poor growth. Occupational therapists and speech-language therapists assess feeding and suggest positions, slow-flow nipples, or thickened feeds when appropriate. If oral feeding is unsafe, they help plan tube feeding. This reduces the risk of pneumonia and malnutrition. PubMed Central+1
Low-vision and sensory support
Congenital cataracts severely reduce vision from birth. Even when surgery is not possible because of the baby’s overall condition, parents are advised to use bright, high-contrast objects, soft noise, and gentle touch to stimulate remaining senses. Early sensory stimulation is known to support brain development in many high-risk infants, although data for this specific syndrome are lacking. SAGE Journals+1
Nutrition planning and growth monitoring
Good nutrition is vital for immune function and tissue repair, especially in babies with kidney disease. Dietitians help choose appropriate calories, protein, and minerals, often using breast milk plus specialized formulas. Weight, length, and head circumference are monitored frequently to detect under-nutrition or fluid overload early. Lippincott Journals+1
Infection prevention and strict hygiene
Babies with kidney failure and seizures are vulnerable to infections, which can be fatal. Non-drug infection prevention includes strict hand hygiene, limiting visitors, careful cleaning of lines and tubes, and correct care of dialysis catheters if used. Bundles of infection-control practices are widely proven to reduce hospital infections in neonatal and pediatric intensive care units. Lippincott Journals+1
Vaccination planning
Standard childhood vaccines are important, but timing may be adjusted around serious illnesses, surgeries, or immunosuppressive treatments. Pediatric nephrology and neurology teams usually follow national immunization schedules while considering the child’s immune status. Vaccines help prevent infections that could further harm kidneys or brain. Lippincott Journals+1
Blood pressure monitoring and lifestyle guidance
High blood pressure is common in chronic kidney disease and can worsen both kidney and brain damage. In hospital, blood pressure is measured often; at home (if the child survives), parents may learn to check it with appropriate pediatric cuffs. Lifestyle advice for older children includes low-salt diet and keeping a healthy weight, adapted to kidney function. Lippincott Journals+1
Renal replacement preparation (dialysis education)
If the baby lives long enough and kidney failure is severe, doctors may discuss peritoneal dialysis or hemodialysis. Non-pharmacological care includes teaching parents what dialysis is, how it works, what equipment is used, and what signs of complications to watch for. This helps families make informed decisions aligned with prognosis and quality-of-life goals. Lippincott Journals+1
Psychological support for parents and family
Knowing that a child has a lethal, extremely rare syndrome causes intense grief, guilt, and anxiety. Psychologists, counselors, and social workers provide emotional support, help families cope with uncertainty, and guide them through complex choices. Evidence from pediatric palliative care shows that such support reduces depression and improves bereavement outcomes. DoveMed+1
Spiritual and cultural support
Many families draw strength from spiritual beliefs or cultural practices. Hospitals often provide chaplains or links to community leaders. Respectful integration of these preferences into care plans improves family satisfaction and may ease decision-making around life-sustaining treatments. PubMed Central
Palliative care and comfort-focused care
Because prognosis is extremely poor, pediatric palliative care should be involved early. The focus is on relief of pain, breathlessness, agitation, and feeding discomfort, using both non-drug methods (repositioning, skin care, gentle massage) and appropriate medications. Palliative care teams also support communication about goals and end-of-life choices. DoveMed+1
Care coordination between specialties
Children with this syndrome need a team: neonatology, neurology, nephrology, ophthalmology, genetics, and palliative care. Structured case conferences and shared care plans help avoid conflicting advice and repeated tests, which is known to improve quality of care in complex pediatric conditions. PubMed Central+2SpringerLink+2
Genetic counseling for parents and extended family
Because the original cases occurred in first-cousin parents, autosomal recessive inheritance is suspected. Genetic counseling explains recurrence risk in future pregnancies, options for carrier testing, and potential prenatal or preimplantation diagnosis. Similar approaches are standard in other autosomal recessive congenital cataract–neuropathy syndromes. nature.com+4NCBI+4MalaCards+4
Prenatal and preconception counseling
For future pregnancies, high-risk couples can receive counseling before conception and early in pregnancy. This may include discussion of ultrasound surveillance, targeted genetic testing if a causal variant is identified, and informed choices about pregnancy continuation. Such strategies are routinely used in other lethal genetic syndromes. National Organization for Rare Disorders+1
Parent education and home-care training
If a child is discharged home, parents need practical training: safe handling, feeding, tube care if present, recognizing seizures or respiratory distress, giving medicines, and knowing when to seek emergency help. Structured discharge education has been shown to reduce readmissions in other complex pediatric diseases. Lippincott Journals+1
Peer and community support groups
Because the syndrome is so rare, families often connect with broader groups for congenital cataracts, pediatric kidney disease, or rare genetic diseases. Online and local support communities provide practical tips and emotional support, which can reduce isolation and improve coping. National Organization for Rare Disorders+2SAGE Journals+2

Drug treatments

Important safety note: There is no drug that cures congenital cataract, nephropathy, encephalopathy syndrome itself. Medicines are used to control seizures, manage kidney failure, treat anemia and bone disease, and relieve symptoms. Exact doses, timing, and combinations must be decided by neonatologists, pediatric neurologists, and nephrologists.

Phenobarbital (including Sezaby®)
Phenobarbital is a barbiturate medicine used for many years to control seizures. Sezaby is a phenobarbital sodium injection specifically approved by the FDA for neonatal seizures in term and preterm infants. It calms over-excited brain cells by increasing the effect of the GABA neurotransmitter. Side effects include sleepiness, breathing depression, feeding problems, and long-term neurodevelopment concerns, so careful monitoring is required. MedlinePlus+3FDA Access Data+3Sun Pharmaceutical Industries+3
Levetiracetam (Keppra®)
Levetiracetam is a newer anti-seizure drug approved for several seizure types in older children and adults. It binds to the synaptic vesicle protein SV2A and reduces uncontrolled firing of neurons. In neonatal practice it is increasingly used off-label when phenobarbital does not fully control seizures. Side effects can include irritability, sleepiness, and changes in mood; dosing is adjusted for kidney function. FDA Access Data+2FDA Access Data+2
Fosphenytoin / phenytoin (Cerebyx®, Dilantin®)
Fosphenytoin is a pro-drug that converts to phenytoin, an anti-seizure medicine that blocks voltage-gated sodium channels in neurons. It is sometimes used as second-line therapy for refractory seizures. Infusion must be slow to avoid heart rhythm problems and low blood pressure. Side effects include low blood pressure, heart rhythm disturbance, rash, and liver toxicity. FDA Access Data+1
Midazolam (benzodiazepine)
Midazolam is a short-acting benzodiazepine used in continuous infusion to control very stubborn seizures and provide sedation. It enhances GABA-A receptor activity and reduces cortical excitability. Side effects include low blood pressure, depressed breathing, and withdrawal if stopped suddenly. Evidence comes from neonatal status epilepticus management, not from this exact syndrome. FDA Access Data+1
Furosemide (Lasix®)
Furosemide is a loop diuretic widely used in pediatric kidney and heart disease to remove extra fluid by blocking sodium and chloride reabsorption in the loop of Henle. It can help treat fluid overload, high blood pressure, and lung congestion in nephropathy. Side effects include dehydration, low blood pressure, low potassium, hearing problems at high doses, and worsening kidney function if overused. FDA Access Data+3FDA Access Data+3FDA Access Data+3
ACE inhibitors (for example captopril or enalapril)
Angiotensin-converting enzyme (ACE) inhibitors are used in chronic kidney disease to reduce protein loss in urine and protect kidney function by blocking the renin–angiotensin–aldosterone system. In infants who live long enough, these drugs may help control blood pressure and slow kidney damage. Side effects include low blood pressure, high potassium, and reduced kidney filtration, so they require close monitoring. Lippincott Journals+1
Calcium channel blockers (for example amlodipine)
If blood pressure remains high despite diuretics and ACE inhibitors, calcium channel blockers may be added. They relax blood vessel muscles by blocking L-type calcium channels, which lowers blood pressure and reduces strain on the heart and kidneys. Side effects include swelling of legs, flushing, and fast heartbeat. Lippincott Journals+1
Epoetin alfa (Epogen®, Procrit®, Retacrit®)
Epoetin alfa is a synthetic form of erythropoietin, a hormone that stimulates red blood cell production. It is commonly used to treat anemia in chronic kidney disease. It is given by injection, and doses are adjusted based on hemoglobin and iron levels. Side effects include high blood pressure, blood clots, and injection-site reactions; careful monitoring is essential. PubMed Central+3FDA Access Data+3FDA Access Data+3
Intravenous or oral iron preparations
Anemia in kidney disease often includes iron deficiency. Oral or intravenous iron helps the body respond to erythropoietin and build hemoglobin. Iron works by supplying the core mineral needed for oxygen-carrying red blood cells. Side effects include stomach upset with oral iron and allergic reactions with IV iron; dosing is individualized. PubMed Central
Calcitriol (Rocaltrol®, Vectical®)
Calcitriol is the active form of vitamin D. It helps the gut absorb calcium and phosphate and regulates parathyroid hormone levels. In kidney failure, the kidneys cannot make enough calcitriol, leading to bone weakness. Supplementation in children with renal failure is standard practice but must be closely monitored to avoid high calcium and phosphate, which can damage blood vessels. FDA Access Data+4FDA Access Data+4FDA Access Data+4
Phosphate binders (for example sevelamer)
When kidneys fail, phosphate builds up in the blood, worsening bone disease and cardiovascular risk. Phosphate binders attach to phosphate in the gut so it leaves the body in stool. This reduces serum phosphate and protects bones. Side effects include constipation, nausea, and interference with absorption of other medicines. Evidence comes from pediatric chronic kidney disease, not this specific syndrome. FDA Access Data+1
Sodium bicarbonate
Metabolic acidosis is common in advanced kidney disease. Sodium bicarbonate, given orally or intravenously, helps buffer excess acid and maintain normal blood pH. Better acid–base balance can improve appetite, growth, and muscle function. However, excess sodium can worsen high blood pressure and swelling, so dosing is tailored to lab results. Lippincott Journals+1
Antibiotics for infections
Babies with central lines, dialysis catheters, or lung problems are at high risk of bacterial infection. Prompt antibiotic therapy based on local guidelines and culture results is crucial. Antibiotics act by killing or stopping growth of bacteria. Kidney-cleared antibiotics require dose adjustment to avoid toxicity. The choice of drug depends on infection site and resistance patterns. Lippincott Journals+1
Proton pump inhibitors or H2 blockers
Stress ulcers and reflux can occur in critically ill infants. Acid-suppressing drugs such as omeprazole or ranitidine (now largely replaced by other agents) reduce stomach acid production by blocking proton pumps or histamine-2 receptors. They help prevent bleeding and discomfort. Long-term use may increase infection or nutrient deficiency risk, so they are used only when needed. DrugBank+1
Analgesics for pain and discomfort
Paracetamol (acetaminophen) and, in selected cases, opioids are used to ease pain from procedures, surgery, or advanced disease. Pain control improves comfort, sleep, and bonding with parents. Doses are carefully adjusted for weight and kidney function to avoid liver or respiratory toxicity. Non-drug comfort measures are always used alongside medicines. PubMed Central
Antiemetics for nausea and vomiting
Babies and children with kidney failure often have nausea. Antiemetic drugs such as ondansetron block serotonin receptors in the gut and brain to reduce vomiting. Improved control of nausea helps maintain nutrition and prevents dehydration. Side effects can include constipation or mild rhythm changes on the ECG, so monitoring is important. PubMed Central
Electrolyte replacement solutions
Potassium, calcium, and magnesium may be low or high depending on kidney function, diuretics, and dialysis. Carefully adjusted intravenous or oral electrolyte solutions correct these imbalances. Stable electrolytes are essential for normal heart rhythm and brain function. Treatment is guided strictly by repeated blood tests. Lippincott Journals+1
Antihypertensive beta-blockers (for example labetalol)
If ACE inhibitors and calcium channel blockers are not enough to control blood pressure, beta-blockers may be added. They slow heart rate and reduce cardiac output by blocking β-adrenergic receptors. Benefits include better blood pressure control and reduced risk of stroke or heart failure; side effects include low heart rate, fatigue, and low blood sugar in infants. Lippincott Journals+1
Vitamin B-complex and folate
These vitamins support red blood cell production and nerve function. In kidney disease, water-soluble vitamins may be lost during dialysis or due to poor intake. B-complex supplements are often prescribed in pediatric CKD to prevent deficiency. They are generally safe but need medical supervision to avoid unnecessary or excessive dosing. PubMed Central
Intravenous immunoglobulin (IVIG) in selected cases
If the baby develops severe infections or specific immune problems, IVIG may occasionally be considered. It provides pooled antibodies from healthy donors to help fight infection and modulate the immune system. Because it can cause fluid overload, allergic reactions, or kidney stress, it is reserved for defined indications and given under strict monitoring. PubMed Central

Dietary molecular supplements

Important: For infants, breast milk or appropriate formula is the main “supplement.” Any extra supplement must be prescribed by a pediatric specialist; many adult supplements are unsafe in babies or in kidney failure.

Omega-3 fatty acids (DHA/EPA)
Omega-3 fatty acids are long-chain fats found in fish oil and some algae. They support brain and retinal development and may reduce inflammation. In older children with kidney disease, omega-3s can modestly improve lipid profile and possibly vascular health. In infants, high-dose supplements are not routine; instead, formulas enriched with DHA or maternal diet optimization during breastfeeding are preferred. SAGE Journals+1
Vitamin D (cholecalciferol), separate from calcitriol
Standard vitamin D helps maintain bone health and immune function. In early CKD, nutritional vitamin D may be used before active forms like calcitriol are needed. It works by raising 25-hydroxyvitamin D levels, which the body converts to active calcitriol when kidneys allow. Excess vitamin D can cause high calcium and kidney stones, so blood tests guide dosing. DrugBank+1
Water-soluble B-vitamins (B1, B2, B6, B12)
B-vitamins support energy production, nerve health, and red blood cell formation. They are often given together as a renal multivitamin in children on dialysis. Because they are water-soluble, excess amounts are usually excreted, but dosing still must consider kidney function. These vitamins do not treat the syndrome itself but reduce the risk of deficiency-related problems. PubMed Central
Folic acid
Folic acid is needed to build DNA and red blood cells. In anemia of chronic disease, adequate folate helps maximize the response to epoetin therapy. It is usually provided as part of renal vitamin preparations. Too much folic acid can mask vitamin B12 deficiency, so balanced dosing is important. PubMed Central
L-carnitine
L-carnitine helps transport fatty acids into mitochondria for energy production. Some dialysis patients develop carnitine deficiency, which can cause muscle weakness and fatigue. L-carnitine supplements may improve exercise tolerance and reduce cramps in older CKD patients, but evidence in infants is limited, so use is highly specialized. PubMed Central
Coenzyme Q10 (ubiquinone)
Coenzyme Q10 is an antioxidant involved in mitochondrial energy production. It has been studied in some cardiac and mitochondrial disorders to improve energy metabolism. In kidney disease, small studies suggest better endothelial function, but it is not standard of care for infants and could interact with other medications. Any use must be part of a specialist-guided plan. PubMed Central
Probiotics
Probiotics are live microorganisms that can support gut health and may reduce some infections or uremic toxin production in older CKD patients. In fragile neonates, the choice of strain and timing is critical to avoid sepsis. If used, it is always under neonatology guidance with products proven safe in preterm or sick infants. PubMed Central
Zinc
Zinc is important for growth, immune function, and wound healing. Children with chronic illnesses or poor nutrition may be zinc-deficient, which can worsen infections and slow growth. Low-dose zinc supplements can correct deficiency, but high doses can interfere with copper absorption. In kidney disease, levels and needs must be checked before supplementation. PubMed Central
Selenium
Selenium is a trace antioxidant mineral. Some studies in CKD suggest that selenium deficiency is common and that replacement may improve antioxidant capacity. However, the margin between deficiency and toxicity is narrow, especially in babies, so selenium must not be given without confirmed deficiency and specialist supervision. PubMed Central
Choline
Choline supports brain development and cell membrane structure. In general pediatric nutrition, adequate choline intake is encouraged through breast milk or formula. There is limited evidence for extra choline supplementation in CKD or this syndrome, so it is usually met through normal feeds rather than separate products. SAGE Journals+1

Immunity-, regenerative-, and stem-cell-related drugs

Very important: There are no approved regenerative or stem cell drugs specifically for congenital cataract, nephropathy, encephalopathy (Crome) syndrome. The treatments below are discussed only as concepts or therapies used in related conditions and research.

Erythropoietin (Epoetin alfa) as a tissue-protective agent
In addition to treating anemia, erythropoietin has shown protective effects on kidney and brain cells in animal models of ischemia. It signals through erythropoietin receptors to reduce apoptosis and oxidative stress. Clinical use in infants remains focused on anemia of CKD and prematurity, not on neuroprotection in this syndrome, because high doses can cause hypertension and thrombosis. FDA Access Data+1
Granulocyte colony-stimulating factor (G-CSF)
G-CSF stimulates production of neutrophils and is used in some pediatric cancers and severe neutropenia. It has been studied as a regenerative factor in heart and brain injury but is not standard for this syndrome. G-CSF may improve immune defense but can cause bone pain, high white-cell counts, and spleen enlargement, so its use is restricted to specific indications. PubMed Central
Mesenchymal stem cell (MSC) therapy for kidney injury (experimental)
MSC infusions are being researched for acute kidney injury and chronic kidney disease because they can release anti-inflammatory and pro-repair factors. Early trials suggest possible improvement in kidney function, but there are no approved MSC therapies for infants with Crome syndrome. Risks include infection, immune reactions, and tumor formation, so this remains research-only. PubMed Central
Induced pluripotent stem cell (iPSC)–derived kidney organoids (research)
Scientists are developing kidney organoids from iPSCs to study genetic kidney diseases and test drugs. In the future, such technology may guide personalized therapy or regeneration. For now, it is purely experimental and used in laboratories, not in patients. It is relevant as a potential long-term avenue for lethal renal syndromes, but not a treatment for current patients. SpringerLink+1
Gene-directed therapies for monogenic kidney–eye syndromes
For some monogenic renal and ocular disorders, gene therapy is being explored, especially in retinal diseases. The idea is to deliver a correct copy of the gene using viral vectors. Because the exact genetic cause of Crome syndrome is not fully defined and the condition is rapidly lethal, gene therapy is not currently available, but advances in other syndromes may inform future strategies. SpringerLink+2SAGE Journals+2
Intravenous immunoglobulin (IVIG) as immunomodulator
IVIG, already mentioned as a general drug, can also be considered an immune-modulating biologic. It may be used in selected autoimmune or severe infectious complications but is not a disease-modifying treatment for this syndrome. Its mechanism is complex, involving neutralization of pathogens, modulation of Fc receptors, and complement inhibition. Risks and costs restrict its use to clear indications. PubMed Central

Surgeries

Cataract extraction surgery
In many congenital cataract syndromes, early lens removal can improve vision and prevent amblyopia. The procedure removes the cloudy lens through a small incision and may include lens implant or contact lens fitting. In Crome syndrome, surgery might not be offered if life expectancy is only a few months or if anesthesia risk is too high. Decisions are individualized, balancing potential visual benefit and overall prognosis. SAGE Journals+1
Peritoneal dialysis catheter placement
If the kidneys fail severely, a soft catheter can be placed surgically into the abdominal cavity for peritoneal dialysis. Dialysis fluid is cycled in and out to remove toxins and excess fluid. This surgery is done to support life when kidney function is inadequate, but in a lethal multi-organ syndrome, teams must carefully discuss whether dialysis will meaningfully improve comfort or survival. Lippincott Journals+1
Central venous line insertion
A central line is a long catheter placed into a large vein for delivery of medicines, nutrition, and blood sampling. It is placed under sterile conditions in the operating room or ICU. In very sick infants, central access reduces repeated needle sticks but increases infection and clot risk; its use is weighed against these risks. Lippincott Journals+1
Feeding tube or gastrostomy
If the baby cannot safely feed by mouth for a longer period, a gastrostomy tube may be considered. Surgeons place the tube into the stomach through the abdominal wall. It allows safe delivery of milk and medicines, reducing aspiration risk and supporting nutrition. In a short-lived condition, temporary nasogastric tubes are often preferred, but gastrostomy may be considered if the child survives longer. Lippincott Journals+1
Tracheostomy in chronic ventilation
When long-term mechanical ventilation is needed, a tracheostomy (tube placed through the neck into the windpipe) can make breathing support more comfortable and easier to manage. However, in a lethal neuro-renal syndrome, tracheostomy is rarely appropriate and is considered only when overall goals clearly favor long-term life support. PubMed Central

Preventions

Because this is a genetic, ultra-rare condition, we cannot fully “prevent” it once the embryo has inherited the disease-causing changes. Prevention focuses on reducing recurrence risk and preventing complications.

Genetic counseling for at-risk families to explain inheritance and recurrence risk. NCBI+2MalaCards+2
Carrier testing where possible in parents and close relatives once the genetic defect is identified. NCBI+1
Prenatal diagnosis in future pregnancies with targeted genetic testing and detailed ultrasound. National Organization for Rare Disorders+1
Avoidance of consanguineous marriages in families with known autosomal recessive lethal syndromes. NCBI+1
Early referral to tertiary centers when a newborn shows cataract plus signs of kidney or brain disease. SAGE Journals+1
Strict infection-control practices to prevent sepsis in neonates with kidney failure and seizures. Lippincott Journals+1
Avoidance of nephrotoxic drugs (for example some NSAIDs, aminoglycosides) unless absolutely necessary. Lippincott Journals+1
Optimized antenatal care for mothers, including control of infections and hypertension, to reduce additional stress on fetal kidneys and brain. Lippincott Journals+1
Timely management of treatable causes of encephalopathy, such as low glucose or severe jaundice, to prevent extra brain injury in any newborn. ClinicalTrials.gov+1
Family education about warning signs so that serious symptoms are recognized and treated early, even if cure is not possible. PubMed Central+1

When to see doctors (or seek urgent help)

Parents, relatives, and health workers should seek immediate medical attention during pregnancy if ultrasound shows dense congenital cataracts, abnormal kidney size, or severe growth restriction together with abnormal brain findings. These combinations strongly suggest a syndromic condition needing specialist evaluation. Lippincott Journals+3SAGE Journals+3nature.com+3

After birth, urgent medical review is needed if a baby has cloudy pupils, poor feeding, floppy or stiff muscles, abnormal movements, repeated seizures, poor urine output, swelling of legs or face, problems breathing, or failure to gain weight. Any infant with cataracts plus signs of kidney failure (little urine, high blood pressure, swelling) or encephalopathy (lethargy, seizures) should be seen in a tertiary center with neonatology, neurology, nephrology, and ophthalmology. ClinicalTrials.gov+3SAGE Journals+3PubMed Central+3

Parents should also see doctors or palliative care specialists if they feel overwhelmed, confused about decisions, or unsure whether ongoing invasive treatments still match their values and the baby’s comfort. Shared decision-making is essential in this lethal condition. DoveMed+1

What to eat and what to avoid

Because most affected infants have severe disease and very short survival, feeding decisions are highly individualized. General principles are adapted from pediatric kidney and neurodevelopmental nutrition.

Prioritize breast milk whenever possible, because it supports immunity and gut health and is usually best tolerated. Lippincott Journals+1
Use specialized renal formulas only if prescribed, to control fluid, protein, and mineral load in kidney failure. Lippincott Journals+1
Ensure enough calories (through milk or tube feeding) so the baby has energy to grow and fight infection. Lippincott Journals
Avoid over-feeding fluids that are not approved by the care team, because extra water or herbal drinks can worsen electrolyte imbalance. Lippincott Journals+1
Avoid high-salt foods if the child survives to take solids, as excess salt raises blood pressure and stresses the kidneys. Processed snacks and salty soups should be minimized. Lippincott Journals
Avoid high-phosphate foods (cola drinks, processed meats, some cheeses) in older children with CKD, to protect bones and blood vessels. PubMed Central+1
Avoid unregulated supplements or herbal products, as many can be toxic to kidneys or interact with medicines. PubMed Central
Work closely with a pediatric renal dietitian to adjust protein intake, as both too much and too little protein can cause problems in CKD. Lippincott Journals+1
For breastfeeding mothers, a balanced diet with enough omega-3 fatty acids and micronutrients supports breast milk quality, but extreme diets or high-dose supplements should be avoided unless recommended. SAGE Journals+1
Monitor feeding tolerance and growth, and report vomiting, diarrhea, or poor weight gain early so the feeding plan can be changed. Lippincott Journals+1

FAQs

Is congenital cataract, nephropathy, encephalopathy syndrome curable?
No. Based on the very few cases described, this syndrome is considered lethal in early infancy. Treatment focuses on controlling seizures, managing kidney failure, and keeping the baby as comfortable as possible rather than curing the disease. NCBI+2MalaCards+2
How rare is this syndrome?
Extremely rare. Only two affected babies in one family have been described clearly in medical literature, and no new confirmed cases have been reported since the 1960s. Because of this, there are no large studies or standard treatment guidelines. MalaCards+3Genetic Diseases Info Center+3orpha.net+3
What causes this condition?
The exact gene has not been fully identified, but the pattern in the reported family suggests an autosomal recessive disorder linked to parental consanguinity. This means both parents likely carried one copy of a faulty gene, and the baby inherited both copies. Similar inheritance occurs in other congenital cataract–neuropathy syndromes. NCBI+3NCBI+3MalaCards+3
Can anything be done before birth?
If a family has had one affected child and the causative variant is found, prenatal testing may be possible in future pregnancies. Detailed fetal ultrasound can also look for cataracts, kidney abnormalities, and brain changes. Genetic counseling helps families understand options, including preimplantation genetic testing. National Organization for Rare Disorders+2SAGE Journals+2
Why do doctors still treat seizures and kidney failure if the disease is lethal?
Even when cure is not possible, controlling seizures, breathlessness, and fluid overload can reduce suffering and allow parents to spend more peaceful time with their baby. Palliative and supportive treatments focus on quality of life, comfort, and family bonding. DoveMed+1
Are cataract surgeries recommended in this syndrome?
In many congenital cataract syndromes with better prognosis, early surgery is standard. In Crome syndrome, decisions are more complex because life expectancy is very short and the baby may be too unstable for anesthesia. Ophthalmologists and parents decide together whether potential visual benefit justifies surgical risks. SAGE Journals+2nature.com+2
Can dialysis or kidney transplant cure the nephropathy?
Dialysis can temporarily replace some kidney functions and may prolong life, but it does not cure the underlying syndrome or brain damage. Kidney transplant is theoretically possible but is usually not offered when severe, irreversible encephalopathy and lethal prognosis are present. Decisions depend on local practice and family wishes. Lippincott Journals+2PubMed Central+2
Do special diets or supplements stop disease progression?
No diet or supplement can stop this genetic syndrome. Diet and supplements are used only to support nutrition, correct deficiencies, and reduce kidney and bone complications. Any supplement should be discussed with the care team because many products are untested or unsafe in infants with kidney failure. Lippincott Journals+2PubMed Central+2
Is there ongoing research specifically on this syndrome?
There is almost no direct research because the syndrome is so rare. However, research on congenital cataracts, renal ciliopathies, pediatric CKD, neonatal seizures, and regenerative kidney therapies indirectly improves understanding and may one day help similar conditions. PubMed Central+4PubMed Central+4SpringerLink+4
Can other family members be tested?
Yes, if a causative gene variant is identified, relatives can undergo carrier testing. This helps them understand their personal risk and plan pregnancies. If the genetic cause is still unknown, testing options are more limited but may improve in the future as genomic technologies advance. NCBI+2National Organization for Rare Disorders+2
Is it safe to have more children after one affected baby?
Many parents go on to have healthy children, but recurrence risk may be as high as 25% if the condition is autosomal recessive. Genetic counseling, possible carrier testing, and prenatal diagnosis are very important before future pregnancies to make informed choices. NCBI+2National Organization for Rare Disorders+2
What is the role of palliative care, and does it mean “doing nothing”?
Palliative care does not mean giving up. It means doing everything possible to reduce pain, distress, and suffering, while avoiding burdensome interventions that are unlikely to help. It includes symptom control, emotional and spiritual support, and help with difficult decisions, and it can be combined with intensive care when appropriate. DoveMed+1
Can parents stay involved in daily care in the NICU?
Yes. Parents can participate in skin-to-skin contact when safe, gentle touch, talking and singing to the baby, and basic care such as diaper changes. Staff are encouraged to support parental involvement, which strengthens bonding and may ease grief if the baby dies. PubMed Central+1
Will my baby feel pain?
Babies can feel pain and discomfort, but NICU and palliative teams use both non-drug and drug strategies to minimize suffering. This includes careful positioning, quiet environment, and appropriate analgesics and sedatives. Parents should always tell staff if they feel their baby looks uncomfortable, so treatment can be adjusted. PubMed Central+1
What should families remember most about this diagnosis?
Families should remember that this is a tragically severe but extremely rare condition they did not cause. Nothing the parents did during pregnancy has been shown to trigger it. The main goals become loving care, comfort for the baby, and support for the family, while using modern medicine to ease symptoms and guide decisions with compassion and honesty. DoveMed+2NCBI+2

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