Cerebrooculonasal Syndrome

Cerebrooculonasal syndrome (also written cerebro-oculo-nasal syndrome, CONS) is a very rare birth condition where a baby is born with problems in three main areas: the brain (“cerebro”), the eyes (“oculo”), and the nose (“nasal”). These problems start very early in pregnancy, when the baby’s face and brain are forming. Many babies have tiny or missing eyes, very unusual nostrils that look like small tubes (proboscis-like nares), and serious brain malformations. Most children also have delayed development and learning problems. Doctors have described only a few dozen cases worldwide, so we still have a lot to learn about this syndrome. ScienceDirect+4Orpha.net+4PubMed+4

Cerebrooculonasal syndrome (CONS), also called cerebro-oculo-nasal syndrome, is a very rare genetic condition where a baby is born with problems in the brain, eyes, and nose. The main features are severe eye problems (often very small eyes or no eyes), abnormal nostrils that look like small “tubes” (proboscis-like nares), and brain malformations such as enlarged brain ventricles, missing parts of the corpus callosum, Dandy-Walker malformation, or even holoprosencephaly in some cases.PubMed+2The Fetus+2

Children usually have major developmental delay, and may have deafness, seizures, feeding difficulty, breathing problems, limb differences, genital abnormalities, and skull shape changes like brachycephaly (short, broad head). Only a few dozen cases have been reported worldwide, so doctors learn mainly from case reports, not big clinical trials.PubMed+2ScienceDirect+2

Types of Cerebrooculonasal Syndrome

This condition is most often called Cerebro-oculo-nasal syndrome or CONS. Some articles describe it as a multiple congenital anomalies/dysmorphic syndrome, which means a pattern of several birth defects that occur together in the same child. Because it mainly affects the brain, eyes, and nose, it is sometimes placed inside the broader group of frontonasal dysplasia spectrum disorders, which are conditions with midline facial defects and brain abnormalities. PubMed+3medsci.org+3Wikipedia+3

Doctors have not agreed on official “types,” but based on the signs that have been reported, we can think of a few clinical forms of CONS. One form is a classic or severe type, where the baby has obvious eye absence or very small eyes, tube-like nostrils, large brain malformations such as encephalocele or hydrocephalus, and major developmental delay. These babies often have many facial and body differences and may have serious medical problems from birth. PubMed+3thefetus.net+3PubMed+3

A second form is a moderate type, where the eyes and brain are abnormal but a little less severely. For example, there may be microphthalmia instead of complete anophthalmia, milder changes in the brain’s structure, and some nasal deformity. The child still has developmental delay and facial differences, but they might survive longer and sometimes achieve more milestones. This “moderate” picture is seen in some of the Brazilian patients described in medical reports. PubMed+2PubMed+2

A third form is a mild or incomplete type, where the nose looks abnormal but the eyes and brain may appear nearly normal on imaging. A few reported patients had the typical nasal shape but no clear brain or eye defects, which suggests that CONS can show a wide range of severity. These children may still have learning difficulties or subtle neurological problems, but their overall appearance is less striking than in the classic cases. PubMed+1

Causes and Risk Factors

1. Genetic mutation in a single gene
   Recent research suggests that CONS may be caused, at least in some families, by a change (mutation) in a gene that helps control early head and face development. A candidate gene called ZNF185 on the X-chromosome has been proposed, which may explain why some cases affect boys more often and may involve X-linked inheritance. However, this is still being studied and is not yet proven for every patient. Karger Publishers+2PubMed+2

2. Possible X-linked inheritance pattern
   Because one suspected gene sits on the X-chromosome, CONS may sometimes run in families in an X-linked recessive way. This means mothers can carry the mutation without severe signs, while male children may be more severely affected. Still, most reported cases appear to be isolated, so even if this pattern is possible, it is not seen in every family. Karger Publishers+1

3. De novo (new) mutations
   In many families, parents are healthy and have no history of similar problems. In these cases, doctors think the mutation likely arose newly in the egg or sperm or very early after conception. These are called “de novo” mutations. They are not caused by anything parents did but happen randomly during cell division or DNA copying errors. PubMed+1

4. Genes involved in brain patterning pathways
   CONS has features that overlap with disorders linked to the Sonic Hedgehog (SHH) pathway, such as holoprosencephaly and midline facial defects. A mutation in PTCH1, which is part of this pathway, has been reported in one patient. This suggests that disruption of brain patterning pathways may sometimes contribute, but this association is still rare and not confirmed for all cases. thefetus.net+2Karger Publishers+2

5. Complex genetic background and modifier genes
   Even when a main gene is involved, other genes can make the condition milder or more severe. These are called modifier genes. For CONS, researchers think that other genetic factors likely influence how the nose, eyes, and brain form, which helps explain why findings differ from one child to another, even within the same syndrome. PubMed+1

6. Consanguinity (parents related by blood)
   Some reported cases come from families in which the parents are related (for example, cousins). When parents share ancestors, they are more likely to both carry the same rare gene mutation. This can increase the chance that a child will inherit two copies of a harmful variant or one copy of an X-linked variant in males, which may contribute to very rare syndromes like CONS. PubMed+1

7. Chromosome imbalance or microdeletion (suspected)
   In some congenital malformation syndromes, tiny missing or extra pieces of chromosomes (microdeletions or microduplications) cause broad effects on facial and brain development. Even though a clear recurrent chromosomal change has not been firmly proven for CONS yet, doctors usually check for this using chromosomal microarray, because similar syndromes have been linked to such imbalances. MalaCards+1

8. Abnormal early brain development (holoprosencephaly spectrum)
   CONS often includes brain malformations like encephalocele, corpus callosum defects, and sometimes holoprosencephaly. All of these are primary errors in early brain formation, not problems that happen later in life. They result from disrupted signaling and tissue growth while the embryo’s forebrain and midface are forming. Wiley Online Library+2medsci.org+2

9. Disruption of neural crest cell migration
   The bones and soft tissues of the face develop partly from neural crest cells, which migrate from the early nervous system. If these cells do not move or grow correctly, midline facial defects and nasal anomalies can result. CONS is thought to involve abnormal neural crest development, similar to other frontonasal dysplasia conditions. medsci.org+1

10. Intrauterine growth disturbance
    Many CONS babies have small size before and after birth, suggesting that overall growth signaling in the womb is affected. This is likely secondary to the underlying genetic problem, but it shows that the syndrome does not only affect structure, it also affects how rapidly the fetus grows. PubMed+1

11. General genetic syndromes with overlapping features
    Some conditions that share features with CONS, such as cerebrofaciothoracic dysplasia or other frontonasal dysplasia syndromes, are caused by specific genes like TMCO1. While these are distinct diagnoses, their existence supports the idea that a gene controlling midline face and brain development could cause a cluster like CONS when mutated. Wikipedia+1

12. Environmental teratogens in pregnancy (theoretical)
    For many rare malformation patterns, doctors also consider teratogens—harmful exposures during pregnancy such as certain medicines, chemicals, or infections. There is no strong proof that a specific teratogen causes CONS, but in general, these agents can damage early brain and face development, so they are viewed as possible contributors in some unexplained cases. Wikipedia+1

13. Maternal infections affecting early brain development
    Some infections in pregnancy (for example, rubella or cytomegalovirus) are known to cause brain and eye defects. While they have not been directly tied to typical CONS in published series, they are part of the differential diagnosis, and doctors may test for them when similar features are seen, because they can mimic or complicate syndromic malformations. Wikipedia+1

14. Maternal diabetes or metabolic disease (general risk)
    Poorly controlled maternal diabetes is a known risk factor for neural tube defects, brain malformations, and facial anomalies. It is not a proven direct cause of CONS, but because CONS involves the same regions, maternal metabolic diseases are important background risk factors that doctors will ask about when evaluating affected pregnancies. Wikipedia+1

15. Nutritional deficiencies in early pregnancy
    Insufficient folate and other key nutrients can increase the risk of neural tube and brain defects in general. Again, this is not specific to CONS, but in any syndrome involving severe brain malformations, ensuring good maternal nutrition before and during pregnancy is important in lowering overall risk of such anomalies. Wikipedia

16. Advanced parental age (general background risk)
    Advanced maternal or paternal age may raise the chance of new gene mutations or chromosomal problems that contribute to complex malformation syndromes. This factor has not been clearly proven for CONS because the number of cases is small, but it is considered in many rare genetic conditions with de novo mutations. MalaCards+1

17. Possible X-linked dominant lethal effects (hypothesis)
    Because CONS is extremely rare and often severe, some researchers have suggested that certain mutations might be lethal in males before birth, and only milder or mosaic cases survive. This is still theoretical but is one way to explain the low number of observed patients compared with how often random mutations usually happen. Karger Publishers+1

18. Epigenetic changes
    Epigenetic changes are chemical tags on DNA that affect how genes work without changing the DNA sequence. Abnormal epigenetic regulation during early development has been suspected in several complex syndromes. In CONS, epigenetic factors might influence how strongly the main gene problem expresses itself, adding to the variability between patients. Karger Publishers+1

19. Random developmental variation (“developmental noise”)
    Human development is a very complex process. Even with the same gene mutation, small random differences in how cells grow and interact can lead to large differences in final body shape. This “developmental noise” may partly explain why CONS can range from very mild to very severe even with a similar pattern of affected regions. PubMed+1

20. Unknown or multifactorial causes
    In many children with CONS, a single clear cause is never found, even with modern testing. For these families, doctors assume that a mix of yet-unknown genetic changes and environmental influences is responsible. Ongoing research into candidate genes and more detailed DNA testing may help identify these causes in the future. Karger Publishers+2PubMed+2

Symptoms and Clinical Features

1. Abnormal nostrils with proboscis-like appearance
   One of the most striking signs of CONS is the shape of the nose. The nostrils may look like two small tubes or openings that point downward, often separated from the usual nose shape. This “proboscis-like” appearance is part of what makes doctors recognize the syndrome. It reflects abnormal development of the tissues in the middle of the face. Orpha.net+2thefetus.net+2

2. Anophthalmia (missing eyes)
   Some babies with CONS are born without one or both eyes. The eyelids may be small or fused, and there is no normal eyeball behind them. This is called anophthalmia. It results in complete blindness in the affected eye and is often associated with severe brain malformations, because eye and brain development are closely linked in early pregnancy. NCBI+2PubMed+2

3. Microphthalmia (very small eyes)
   Instead of missing eyes, some children have microphthalmia, meaning the eyes are much smaller than usual. The eye can be present but underdeveloped, and vision may be severely reduced or absent. This feature can also be uneven, with one eye smaller than the other. Microphthalmia is part of the spectrum of eye changes described in CONS. PubMed+2NCBI+2

4. Central nervous system malformations
   Many children with CONS have serious brain malformations, such as encephalocele (a sac of brain tissue pushing through a skull opening), enlarged brain ventricles (ventriculomegaly or hydrocephalus), or missing parts of the corpus callosum (the band connecting the brain’s halves). These structural problems can cause seizures, developmental delay, feeding problems, and difficulty with movement. PubMed+2Wiley Online Library+2

5. Developmental delay and intellectual disability
   Because the brain is abnormal, most affected children have delayed milestones such as sitting, walking, and speaking. Many have moderate to severe intellectual disability, meaning they may need lifelong support with learning and daily activities. The degree of delay often reflects how severe the brain abnormalities are. NCBI+2PubMed+2

6. Abnormal skull shape (brachycephaly)
   Some patients have brachycephaly, where the back of the head is flattened and the head is shorter from front to back. This can be due to early fusion of skull bones or the way the brain and skull grow together. It is part of the facial and cranial dysmorphism seen in CONS and related frontonasal disorders. NCBI+1

7. Prominent forehead and midface changes
   A prominent forehead, flat midface, or small cheekbones (malar hypoplasia) are often reported. The philtrum (the groove between the nose and upper lip) can be long, and the upper lip may have a cleft or high-arched palate. Together, these features give a distinctive facial profile that helps clinicians suspect the diagnosis. thefetus.net+2PubMed+2

8. Cleft lip and/or cleft palate
   Some children with CONS have a cleft lip, cleft palate, or both, meaning there is an opening in the upper lip and/or the roof of the mouth. This can cause feeding and speech problems and increases the risk of ear infections. Surgery is usually needed to repair these defects and improve function and appearance. thefetus.net+2Ovid+2

9. Ear abnormalities
   The ears may be set low, rotated, or have a small or missing piece called the tragus. These ear anomalies sometimes come with hearing loss, although this is not present in every case. The abnormal ear shape is another clue that overall head and face development was disrupted before birth. thefetus.net+2PubMed+2

10. Postaxial polydactyly (extra fingers or toes)
    Some patients have postaxial polydactyly, which means an extra finger or toe on the outer side of the hand or foot. This shows that the syndrome affects not only the face and brain but also limb development. These extra digits may be small soft tissue tags or fully formed fingers or toes. Orpha.net+1

11. Genital hypoplasia
    In some cases, the external genitalia are underdeveloped. Boys may have a small penis and undescended testes; girls may have small labia. This suggests that CONS can involve midline structures beyond the head and may affect hormone-related development as well. Orpha.net+1

12. Short stature or growth failure
    Children with CONS may grow more slowly than their peers, leading to short stature. This may be due to feeding difficulties, chronic illness, or the direct effects of brain and hormone abnormalities. Regular monitoring of height and weight is important to support nutrition and check for treatable causes. Orpha.net+1

13. Feeding and swallowing difficulties
    Brain abnormalities, poor muscle tone, and cleft palate can make feeding very difficult in infancy. Babies may struggle to suck, swallow, or coordinate breathing while feeding, leading to poor weight gain and risk of aspiration (food going into the lungs). Many children require special feeding techniques or feeding tubes. ScienceDirect+1

14. Breathing problems
    The unusual nose shape and possible brainstem dysfunction can lead to breathing problems, especially in newborns. The narrow, proboscis-like nostrils may not allow enough airflow, and some children also have airway anomalies. Careful airway evaluation and positioning are often needed in the early period after birth. ScienceDirect+1

15. Seizures or abnormal movements
    Because the brain structure is abnormal, some children experience seizures or unusual stiffening, jerking, or staring spells. Seizures may start in infancy or early childhood and often require long-term treatment with anti-seizure medicines. The risk and severity usually match how extensive the brain malformations are. Wiley Online Library+2PubMed+2

Diagnostic Tests and Evaluation

1. Comprehensive physical examination
   Diagnosis starts with a full physical exam by a pediatrician or clinical geneticist. They carefully look at the baby’s face, head shape, eyes, nose, mouth, limbs, fingers, toes, and genitalia to identify the characteristic pattern of anomalies. The presence of proboscis-like nostrils, eye anomalies, and other dysmorphic features together raises suspicion for cerebrooculonasal syndrome. Orpha.net+2PubMed+2

2. Detailed craniofacial assessment
   A specialist in dysmorphology or craniofacial genetics may perform a more detailed craniofacial assessment. This includes measuring distances between the eyes, head circumference, facial proportions, and looking for signs like brachycephaly, hypertelorism, long philtrum, and clefts. These measurements help distinguish CONS from other frontonasal and craniofacial syndromes that can appear similar. medsci.org+2Wikipedia+2

3. Neurological examination
   A neurological exam checks muscle tone, reflexes, movement, and developmental responses. In CONS, the doctor may find low or high muscle tone, abnormal reflexes, poor head control, and delayed milestones. These findings support the idea that the brain is not developing normally and help guide further imaging tests. PubMed+1

4. Growth and developmental assessment
   Regular measurement of height, weight, and head size, together with tracking of developmental milestones, gives an overview of how the child is growing. Slowed growth or clear delays in movement, language, or social skills are common in CONS and help doctors plan early intervention services such as physiotherapy and speech therapy. Orpha.net+2NCBI+2

5. Ophthalmologic examination
   An eye doctor (ophthalmologist) examines the eyelids, eyeballs, and internal structures using special lights and tools. In CONS, this ophthalmologic exam can confirm anophthalmia, microphthalmia, or other eye abnormalities. Even if the eyes look almost normal, this exam is important to check for hidden structural issues and to assess any remaining vision. NCBI+2PubMed+2

6. Clinical genetic consultation
   A clinical geneticist reviews the medical history, family history, and physical findings, and suggests appropriate genetic tests. This genetic evaluation is key to distinguishing CONS from overlapping syndromes, counseling parents about recurrence risk in future pregnancies, and deciding which molecular tests, such as gene panels or exome sequencing, might be most useful. PubMed+2Karger Publishers+2

7. Chromosomal microarray testing
   A chromosomal microarray looks for small extra or missing pieces of chromosomes that can cause syndromic malformations. While no specific recurrent microdeletion has been tied to CONS, this test helps rule out other known chromosomal syndromes with similar features and may detect novel imbalances that contribute to an individual case. MalaCards+1

8. Single-gene or multigene panel testing
   Because CONS is likely genetic, doctors may request targeted gene testing for candidate genes or a panel that includes genes linked to eye, brain, and facial development, such as PTCH1 or ZNF185 and others in similar pathways. Finding a mutation can confirm the diagnosis at the molecular level and support research into the condition. Karger Publishers+2thefetus.net+2

9. Whole exome or genome sequencing
   If targeted tests are negative, exome or genome sequencing can search across most or all genes for rare variants that might explain the syndrome. Given the rarity and genetic complexity of CONS, these broad tests are increasingly used in specialized centers to identify new genes or confirm suspected ones. Karger Publishers+2PubMed+2

10. Basic laboratory tests (general health screen)
    Blood tests, including a complete blood count, biochemistry panel, and metabolic screening, help evaluate the child’s overall health and organ function. These tests do not diagnose CONS directly but can identify anemia, electrolyte problems, liver or kidney issues, or metabolic disorders that may complicate care in severely affected infants. ScienceDirect+1

11. Infection screening in pregnancy or newborn
    Because some infections can mimic syndromic malformations, doctors may order TORCH or other infection panels for the mother or baby. These tests look for infections like cytomegalovirus or toxoplasmosis. A negative result helps support a genetic rather than infectious cause for the brain and eye abnormalities. Wikipedia+1

12. Hormone and endocrine testing
    The brain controls many hormones, and some children with CNS malformations have endocrine problems, such as growth hormone deficiency or thyroid problems. Hormone tests can check whether the pituitary and related glands are working properly. Detecting and treating hormonal issues can improve growth and development. NCBI+2PubMed+2

13. Electroencephalogram (EEG)
    An EEG records the brain’s electrical activity using electrodes on the scalp. For children with CONS and suspected seizures, EEG helps confirm seizure type and guide medication choice. It may show abnormal background rhythms or epileptic discharges that reflect the underlying brain malformations. Wiley Online Library+1

14. Brainstem auditory evoked responses (BAER)
    Because both the ears and brainstem can be affected, BAER testing measures how sound signals travel from the ear to the brain. This test can detect hearing loss or delays in the nerve pathway, which helps plan hearing support, such as hearing aids, and understand how the syndrome affects sensory systems. NCBI+2PubMed+2

15. Visual evoked potentials (VEP)
    In children with tiny or malformed eyes, it can be hard to know whether any vision is present. VEP tests measure brain responses to visual stimuli like flashing lights or patterns. In CONS, these responses may be reduced or absent, confirming severe visual impairment and helping families plan for early vision rehabilitation. ScienceDirect+1

16. Prenatal ultrasound
    Many cases of CONS can be suspected before birth using prenatal ultrasound. Ultrasound can show missing or very small eyes, abnormal nostrils, and brain anomalies such as hydrocephalus or encephalocele. Early detection allows parents to receive counseling, consider options for pregnancy management, and prepare for specialized care after delivery. thefetus.net+2ScienceDirect+2

17. Fetal MRI
    If ultrasound shows concerning findings, doctors may order fetal MRI, which gives more detailed images of the brain and face. MRI can better define the type and extent of brain malformations, such as corpus callosum defects or posterior fossa abnormalities, helping to refine the diagnosis and prognosis for the baby. ScienceDirect+2ResearchGate+2

18. Postnatal brain MRI
    After birth, MRI of the brain is usually the best imaging test to fully understand the structural anomalies in CONS. It can show encephaloceles, ventricular enlargement, holoprosencephaly spectrum changes, and other subtle abnormalities. This information is essential for planning neurosurgical care, seizure management, and developmental support. PubMed+2Wiley Online Library+2

19. CT scan of the head and facial bones
    A CT scan provides detailed images of the skull, facial bones, and nasal structures. It can show the shape of the proboscis-like nostrils, the presence of bony defects, and the relationship between the brain and skull. CT is especially helpful for surgeons planning operations to repair craniofacial anomalies or encephaloceles. ScienceDirect+2Wiley Online Library+2

20. Skeletal imaging (X-rays or full-body survey)
    Because some children with CONS have limb or rib anomalies such as postaxial polydactyly and skeletal differences, X-rays or full-body skeletal surveys may be done. These images document bone structure, help rule out other skeletal dysplasias, and provide a full picture of how widely the syndrome affects the body. Orpha.net+2PubMed+2

Non-Pharmacological (Non-Drug) Treatments

Because there is no single cure for Cerebrooculonasal syndrome, non-drug therapies are the heart of day-to-day care. Almost all evidence comes from experience with CONS case reports and with other severe neurodevelopmental and craniofacial disorders.PubMed+2The Fetus+2

1. Early developmental and physiotherapy
   Regular gentle exercises, stretching, and play-based movement therapy help keep joints flexible, prevent contractures, and encourage any possible motor skills like head control, rolling, or sitting. The purpose is not to “fix” the brain problem, but to help the child reach their own best level of movement and comfort, and to prevent secondary deformities over time.

2. Occupational therapy for daily skills
   Occupational therapists work on hand use, body positioning, and simple daily activities, adapted to the child’s abilities. The goal is to improve comfort, posture, and participation, even if the child cannot live independently. They also advise on seating systems, splints, and adaptive tools that make caregiving easier and safer.

3. Speech, feeding, and swallowing therapy
   Many children with CONS have weak sucking, swallowing problems, and a high risk of aspiration. A speech-language therapist can teach safe feeding positions, texture modifications (such as pureed food), and swallowing strategies. The purpose is to reduce choking and chest infections, and to make feeding more comfortable and less stressful for the family.

4. Low-vision and sensory rehabilitation
   Because many children have anophthalmia or microphthalmia, vision may be severely reduced or absent. Low-vision or sensory therapists focus on using touch, sound, and smell to explore the world. Simple sensory toys, music, and touch-based games can improve awareness, bonding, and quality of life, even when eyesight cannot be restored.PubMed+1

5. Hearing assessment and support
   Some children also have hearing loss. Early hearing tests are important. If hearing aids or other devices are possible, they can improve communication with family. Even when hearing cannot be fully corrected, therapists can teach families to use touch, vibration, and routine to “communicate” and build emotional connection.

6. Positioning, seating, and orthotic devices
   Custom seating systems, head supports, ankle-foot orthoses, and special mattresses help keep the body aligned, protect the airway, and reduce pressure sores. Good positioning lowers the risk of hip dislocation, spine curvature, and pain, which are common in children with severe brain malformations.

7. Respiratory physiotherapy
   Children with poor muscle tone or swallowing problems often get chest infections. Chest physiotherapy (postural drainage, gentle percussion, breathing exercises if the child is able) can help clear mucus. The purpose is to prevent pneumonia and hospital admissions and to keep breathing as easy as possible.

8. Nutrition and growth support
   Dietitians help choose the right calorie, protein, and fluid intake based on weight and medical conditions. They may suggest thickened feeds, high-energy formulas, or feeding by nasogastric or gastrostomy tube if oral feeding is unsafe. Good nutrition supports immune function, wound healing, and growth, even if the child’s growth pattern is not typical.

9. Psychological support for parents and siblings
   Raising a child with CONS is emotionally and practically very hard. Counseling, peer support groups, and respite care can reduce stress, depression, and burnout in caregivers. Mental health support helps families make complex decisions about surgeries, intensive care, or palliative care, grounded in their values and realities.

10. Special education and early intervention programs
    Although cognitive outcomes are usually severely affected, early intervention and special education services can still help with sensory stimulation, basic communication routines, and enjoyment. Programs are usually individualized, focusing on comfort, interaction, and structured daily routine rather than academic goals.The Fetus+1

11. Augmentative and alternative communication (AAC)
    Tools like picture boards, simple switches, or eye-blink / touch-based systems may allow the child to express discomfort, preferences, or simple choices. Even very basic AAC can reduce frustration and help parents understand the child’s needs more clearly.

12. Environmental modifications at home
    Simple changes like non-slip flooring, clear pathways, safe bed rails, quiet low-light environments, and consistent room layouts reduce accidents and anxiety. For visually impaired children, keeping furniture in the same place and using familiar sounds and textures provides a sense of security.

13. Caregiver training for seizures and emergencies
    If the child has epilepsy, families should learn seizure first aid, when to use rescue medicines (if prescribed), and when to call emergency services. Training reduces panic and helps caregivers respond quickly and safely.

14. Regular dental and oral care
    Due to feeding issues and drooling, children are at higher risk of dental caries and gum disease. Early dental visits, fluoride use if appropriate, and careful mouth cleaning protect oral health and reduce pain and infection risk.

15. Skin care and pressure sore prevention
    Children who cannot change position easily need frequent repositioning, skin checks, and suitable cushions or mattresses. This prevents painful pressure sores, especially on heels, hips, and back of the head.

16. Post-surgical rehabilitation
    After neurosurgery, craniofacial surgery, or eye procedures, physio and occupational therapy help the child regain their baseline function and adapt to changes. Therapists also teach caregivers how to handle the child safely after surgery.

17. Social work and care coordination
    Social workers help families access disability benefits, assistive devices, transportation, home modifications, and special schooling. Because CONS affects many systems, having one person coordinate appointments and services is very helpful.

18. Genetic counseling for the family
    Genetic counselors explain what is known about the cause, recurrence risk, and options for future pregnancies, including prenatal ultrasound and, if a gene is known, genetic testing. This support helps parents make informed reproductive choices.PubMed+2Wiley Online Library+2

19. Palliative and supportive care planning
    Given the poor overall prognosis reported in the literature, some families may choose a mainly comfort-focused path. Palliative care teams help with symptom control, home support, and planning for end-of-life decisions in a compassionate, structured way.The Fetus+1

20. Family and community support networks
    Connecting with other families of children with severe congenital brain and eye conditions, even if not exactly CONS, can give emotional support and practical tips. Online forums, rare disease organizations, and local disability groups can reduce isolation and share coping strategies.

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Drug Treatments

Important safety note:
There are no drugs specifically approved to cure Cerebrooculonasal syndrome itself. All medicines are used to treat problems such as seizures, reflux, infections, spasticity, or pain, based on general pediatric and neurology practice. Doses are individualized by the child’s specialists; they must never be started, stopped, or changed without a doctor, especially in a child or teen.PubMed+2The Fetus+2

Below are examples of commonly used drug classes; FDA approval is for their usual indications according to official prescribing information (such as labels archived on accessdata.fda.gov), not specifically for CONS.

1. Levetiracetam (antiepileptic)
   Used to control seizures that can occur with brain malformations. It is usually given by mouth or IV in weight-based doses divided two times per day. The purpose is to reduce seizure frequency and severity. It works by modulating synaptic neurotransmitter release. Common side effects include sleepiness, behavior changes, and rarely mood swings.

2. Valproic acid / sodium valproate (antiepileptic)
   Sometimes used when seizures are difficult to control or generalized. It increases brain GABA activity. Side effects can include liver toxicity, weight gain, tremor, and hair changes; it is also strongly teratogenic in pregnancy. In infants and children, specialists monitor liver function and blood counts regularly.

3. Phenobarbital (antiepileptic, barbiturate)
   Often used in newborns and young infants with frequent seizures. It boosts GABA-mediated inhibition in the brain. It can cause drowsiness, breathing depression, and long-term effects on cognition, so doctors balance seizure control with side effects carefully.

4. Baclofen (antispasticity agent)
   If the child has spasticity or stiffness, baclofen relaxes skeletal muscle by acting on GABA-B receptors in the spinal cord. It is usually given orally, sometimes via intrathecal pump in severe cases. Side effects include sleepiness, weakness, and, if stopped suddenly, withdrawal symptoms.

5. Diazepam (benzodiazepine)
   Used short-term for acute seizures or severe muscle spasms. It enhances GABA-A receptor activity, calming abnormal electrical activity. It can cause marked drowsiness and respiratory depression, so it is used under close medical supervision and not as a long-term daily medicine in most children.

6. Proton pump inhibitors (e.g., omeprazole)
   Children with severe reflux or aspiration risk may receive PPIs to reduce stomach acid. This can ease discomfort and protect the esophagus and lungs from acid injury. Long-term use may alter mineral absorption and gut microbiome, so doctors reassess regularly.

7. H2 blockers (e.g., famotidine)
   As an alternative or addition to PPIs, famotidine reduces stomach acid by blocking histamine H2 receptors. It is usually given as a weight-based oral dose once or twice daily. Side effects are generally mild, such as headache or diarrhea, but dosing in infants requires specialist guidance.

8. Antibiotics (e.g., amoxicillin/clavulanate, ceftriaxone)
   Used to treat chest infections, urinary infections, or skin infections, which are more common in children with severe disability. Choice and duration depend on infection type and local guidelines. Overuse can cause resistance, allergic reactions, and gut problems, so antibiotics should only be used when clearly needed.

9. Bronchodilators (e.g., salbutamol / albuterol)
   If the child has wheeze or reactive airway disease, inhaled bronchodilators help open the airways. They stimulate beta-2 receptors in airway smooth muscle. Side effects can include tremor and fast heart rate, so dosing and technique (spacer, mask) must be taught by healthcare staff.

10. Laxatives (e.g., polyethylene glycol)
    Constipation is very common in children with limited mobility and tube feeding. Osmotic laxatives draw water into the bowel to soften stool and make passing easier. Side effects are usually mild bloating or cramps; dose is adjusted by the doctor to avoid diarrhea and dehydration.

11. Anticholinergic agents for drooling (e.g., glycopyrrolate)
    Excess saliva can cause skin breakdown and aspiration risk. Glycopyrrolate reduces salivation by blocking muscarinic receptors; it does not cross the blood-brain barrier easily, so it may have fewer central side effects. It can still cause dry mouth, constipation, or urine retention, so dosing needs monitoring.

12. Simple analgesics (e.g., paracetamol / acetaminophen)
    Used to control pain from procedures, infections, or muscle stiffness. It works centrally to reduce pain and fever. Overdose can damage the liver, so parents must use exactly the dose prescribed and avoid duplicate products that also contain paracetamol.

For all of these medicines, official details about indications, safety, and pharmacology can be found in FDA prescribing information, but decisions must always be made by pediatric specialists familiar with the child’s overall condition.PubMed+2The Fetus+2

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Dietary Molecular Supplements

Evidence for supplements in Cerebrooculonasal syndrome is indirect and mostly extrapolated from general pediatric nutrition and neurodevelopmental care; no supplement has been proven to change the core brain or eye malformations. Doctors or dietitians should check for deficiencies before starting anything.The Fetus+1

1. Balanced pediatric multivitamin – Supports overall micronutrient needs when diet is limited.

2. Vitamin D – Important for bone health and immune support; often needed if the child is indoors a lot.

3. Calcium – Supports bone mineralization, especially if mobility is reduced or anticonvulsants affect bone density.

4. Iron – Only if blood tests show anemia or deficiency; too much iron can be harmful.

5. Folate and vitamin B12 – Needed for red blood cell production and nervous system health; levels should be checked first.

6. Omega-3 fatty acids (fish oil) – May support brain and retinal health in general, although not proven to fix structural anomalies.

7. Zinc – Important for immune function and wound healing; useful if documented deficiency or poor growth.

8. Probiotics – Sometimes used to support gut health, especially if frequent antibiotics or tube feeds are needed.

9. Medium-chain triglyceride (MCT) oil – Adds extra calories in a small volume for children with poor weight gain.

10. Antioxidant combinations (vitamins A, C, E) in safe doses – Sometimes considered to support general cellular health, but strong evidence in CONS is lacking, so clinicians must balance potential benefit and risk.

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Regenerative, Immunity-Boosting, and Stem-Cell-Related Therapies

For Cerebrooculonasal syndrome, there are currently no approved regenerative or stem-cell drugs that can reverse the brain or eye malformations. Research in other neurodevelopmental disorders explores stem-cell and gene-based approaches, but these remain experimental and are not part of standard CONS care.Wiley Online Library+1

Doctors may sometimes use:

1. Optimized vaccination and infection prevention – Strengthening the child’s basic immune defenses through routine vaccines and timely treatment of infections.

2. Nutritional immune support – Adequate protein, calories, and micronutrients (such as vitamin D and zinc) to keep immune cells functioning well.

3. Experimental stem-cell or gene therapy trials (research only) – In the future, understanding genes like ZNF185 or PTCH1 might lead to targeted therapies, but at present any such treatment should only be accessed within carefully regulated clinical trials, never through unregulated clinics.Wiley Online Library+1

Families should be very cautious about clinics advertising “stem-cell cures” without strong scientific evidence, peer-reviewed data, and ethics approval.

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Surgeries

Because Cerebrooculonasal syndrome involves structural problems of the brain, skull, eyes, and nose, surgery is sometimes considered. The decision is very individual and depends on the child’s overall health, prognosis, and family wishes.ScienceDirect+2The Fetus+2

1. Neurosurgery for hydrocephalus or encephalocele
   If brain imaging shows hydrocephalus (too much fluid) or encephalocele (brain tissue herniating through skull), neurosurgeons may consider ventriculoperitoneal shunt placement or repair. The purpose is to relieve pressure and protect brain tissue, but surgery carries risks, especially in medically fragile babies.

2. Craniofacial and nasal reconstruction
   Some children may undergo surgery to reshape the skull or reconstruct the abnormal nasal structures. This can improve breathing, protect the airway, and sometimes make facial appearance more typical. Multiple staged operations may be needed, and benefits must be weighed against anesthesia risks.

3. Cleft lip and palate repair
   If cleft lip or palate is present, repair can improve feeding, speech potential, and reduce ear infections. Timing often follows general cleft surgery protocols but may be adapted because of the child’s other medical issues.The Fetus+1

4. Gastrostomy tube insertion
   When oral feeding is unsafe or not enough, surgeons may place a feeding tube directly into the stomach. This procedure can make nutrition easier and safer and reduce repeated hospital stays for aspiration pneumonia.

5. Eye-related procedures
   In some children with residual eye structures, surgery might address associated problems such as microphthalmia-related cysts or eyelid malpositions. In others with complete anophthalmia, orbital expanders or prosthetic eyes may be used mainly for cosmetic and bone-growth reasons, not for vision.PubMed+1

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Prevention and Risk Reduction

Because the exact genes and mechanisms are still being discovered, true primary prevention of Cerebrooculonasal syndrome is not yet possible. However, several steps can help with early detection and safer pregnancies in families at risk.PubMed+2Wiley Online Library+2

1. Pre-pregnancy and pre-conception genetic counseling for families with a previous affected child.

2. Prenatal ultrasound and, if available, fetal MRI to look for eye, brain, and facial abnormalities in future pregnancies.The Fetus+1

3. Avoiding known teratogens in pregnancy, such as alcohol, certain anti-seizure medicines, and other harmful substances, under medical guidance.

4. Adequate folic acid supplementation before conception and in early pregnancy as part of general neural tube defect prevention.

5. Good control of maternal illnesses (like diabetes, infections) and routine pregnancy care.

6. For the affected child, infection prevention (vaccinations, good hygiene), safe handling, and regular follow-up help prevent complications even if the underlying syndrome cannot be prevented.

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When to See Doctors

Families should stay closely connected with a team that may include neonatologists, pediatric neurologists, geneticists, ophthalmologists, ENT specialists, neurosurgeons, craniofacial surgeons, dietitians, therapists, and palliative care specialists.PubMed+2The Fetus+2

You should seek urgent medical help if the child has:

• New or worsening seizures

• Fast or difficult breathing, blue lips, or repeated chest infections

• Poor feeding, frequent vomiting, or signs of dehydration

• Unusual sleepiness, behavior change, or less response than usual

• Rapidly growing head size or tense fontanelle in a baby

• Uncontrolled pain, fever, or any worrying change you cannot explain

Regular scheduled visits are also important, even without emergencies, to monitor growth, development, vision, hearing, nutrition, teeth, and caregiver stress.

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What to Eat and What to Avoid

There is no special “CONS diet,” but because many children have feeding and swallowing problems, careful food choices can make life easier and safer. A pediatric dietitian should always be involved.

Helpful to eat (as tolerated and safely prepared):

1. Soft, smooth, or pureed foods that are easy to swallow (e.g., mashed vegetables, soft fruits, yogurt, blended meals).

2. Energy-dense foods (like adding healthy oils or formula powders) to give more calories in smaller volumes.

3. Protein-rich foods (eggs, dairy, lentils, beans, soft meats) to support muscle and immune function.

4. Healthy fats (vegetable oils, nut butters if safe, avocado) for energy and brain health.

5. Adequate fluids (water, appropriate oral rehydration, or tube feeds) to prevent dehydration and constipation.

Better to avoid or limit:

6. Hard, dry, or crumbly foods that are easy to choke on (nuts, raw carrots, hard biscuits) unless the child’s swallow is proven safe.

7. Foods with mixed textures (like soup with chunks) that can be hard to manage for children with swallowing problems.

8. Very salty, very sugary, and ultra-processed foods, which do not add much nutrition and can worsen weight or metabolic problems.

9. fizzy drinks or caffeine for older children/teens, which can upset the stomach and affect sleep.

10. Any foods that the child has previously reacted to or that the medical team has advised against for specific reasons (e.g., severe reflux, allergies).

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Frequently Asked Questions (FAQs)

1. Is Cerebrooculonasal syndrome curable?
No. At present, there is no cure that can reverse the brain, eye, or nasal malformations. Treatment focuses on seizure control, feeding support, managing infections, surgeries when appropriate, and maximizing comfort and quality of life.PubMed+2The Fetus+2

2. Is it always genetic?
Evidence suggests a strong genetic basis, with reports linking the condition to genes in developmental pathways such as PTCH1 and possibly ZNF185, but in many children no clear gene is found. Research is ongoing, and families are often offered genetic testing and counseling.Wiley Online Library+1

3. Did we do something wrong during pregnancy?
In almost all reported cases, parents did nothing to “cause” the syndrome. Most genetic changes occur by chance. General healthy pregnancy habits (no smoking or alcohol, folic acid, good antenatal care) are still important, but CONS usually cannot be blamed on a specific action by the parents.

4. What is the life expectancy?
Case reports suggest that many affected babies have a poor prognosis and may die in infancy or early childhood, especially if brain and respiratory problems are severe. Some children may live longer with intensive supportive care. Exact prediction for one child is not possible.PubMed+1

5. Will my child be able to see or hear?
Vision is often severely reduced or absent because the eyes may be very small or missing. Hearing can be normal or reduced. Detailed eye and hearing tests are needed. Even if sight is very poor, sensory programs using touch and sound can still help the child interact with their world.PubMed+1

6. Can surgeries make my child “normal”?
Surgeries can sometimes improve breathing, feeding, or cosmetic appearance (for example, repairing cleft lip or palate, or managing hydrocephalus), but they cannot completely correct the brain malformation or restore normal vision. Decisions should consider the likely benefit, risks, and the child’s comfort.ScienceDirect+2The Fetus+2

7. Can physiotherapy and therapy programs change brain damage?
They cannot repair the underlying brain structure but can help prevent secondary problems like contractures, and can support whatever level of function the child is capable of. They also improve comfort, communication, and bonding.

8. Is there any role for stem-cell therapy now?
At this time, there is no proven stem-cell or gene therapy for Cerebrooculonasal syndrome. Any offer of such treatment should be checked very carefully with trusted specialists and research ethics boards. True clinical trials are tightly regulated and will explain risks and unknowns clearly.Wiley Online Library+1

9. What about future pregnancies?
If a gene change is found, targeted testing in future pregnancies may be possible. Even without a known gene, careful prenatal imaging can sometimes identify similar brain, eye, and facial anomalies. A genetic counselor can explain the estimated recurrence risk and available testing options.PubMed+2Wiley Online Library+2

10. Can my child go to school?
Many children with CONS will need highly specialized, supportive education rather than mainstream schooling. Goals often focus on sensory experiences, communication, and comfort, rather than academic achievement. A special-education team can design an individualized plan.

11. Which specialists should follow my child?
Typically: pediatric neurology, clinical genetics, ophthalmology, ENT/audiology, neurosurgery/craniofacial surgery, gastroenterology/nutrition, physiotherapy, occupational therapy, speech therapy, and palliative care. The exact team depends on the child’s specific problems.PubMed+2The Fetus+2

12. How can we cope emotionally as a family?
This diagnosis is extremely heavy. It is normal to feel grief, anger, guilt, or exhaustion. Psychological support, parent support groups, respite care, and honest, kind communication with the medical team can help. You deserve support as much as your child does.

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: December 21, 2025.