Cataract-aberrant oral frenula-growth delay syndrome is an extremely rare inherited condition in which a child has cataracts (cloudy lenses in the eyes), many abnormal small folds of tissue in the mouth called oral frenula, and slow body growth that leads to short stature. It was first described in one mother and her two children, and it appears to follow an autosomal dominant inheritance pattern, meaning one changed copy of the gene is enough to cause the syndrome. NCBI+2MalaCards+2
Cataract-aberrant oral frenula-growth delay syndrome is an extremely rare genetic condition. It is mainly described in one family (a mother and two children) with autosomal-dominant inheritance. Children have cataracts (clouding of the lens), short stature, abnormal oral frenula (extra or misplaced tissue bands in the mouth), a distinctive facial appearance and sometimes cavernous hemangiomas and hernias.NCBI+1 Because there are no disease-specific drug trials, management focuses on treating each feature (cataracts, growth delay, oral problems, hernias) using general congenital cataract and pediatric growth-delay guidelines.ScienceDirect+3EyeWiki+3Journal of Clinical Medical Case Reports+3
In this name, “cataract” means the clear lens inside the eye becomes cloudy very early in life, “aberrant oral frenula” means there are many frenula in unusual places inside the lips and cheeks, and “growth delay” means the child is shorter than expected for age because of reduced growth over time. The same children may also have a special facial look with up-slanting eyelids, small nose, folds of skin at the inner corners of the eyes, unusual ear shape, skin blood-vessel lumps called cavernous hemangiomas, and hernias. NCBI+2Monarch Initiative+2
Because only one family has been clearly reported, almost everything we know about this condition comes from those three people and from general knowledge about congenital cataracts, oral frenula problems, and short stature. So the information below is based on limited direct evidence plus careful extrapolation from related conditions. PubMed+2EyeWiki+2
Other names
This disorder is also known in the medical literature by several very similar names. The most common synonym is “Cataract, aberrant oral frenula, and growth retardation”, which is the name used in the first case report and in the OMIM and Malacards databases. NCBI+2MalaCards+2
Orphanet and MedGen also list the condition under the label “Cataract-aberrant oral frenula-growth delay syndrome”, using the term “growth delay” instead of “growth retardation,” and they classify it as a “genetic multiple congenital anomalies / dysmorphic syndrome without intellectual disability.” NCBI+2Orpha.net+2
In some lists of rare growth disorders, it is simply written as “cataract, aberrant oral frenula, and growth retardation syndrome” or by database codes such as OMIM 115645, Orphanet ORPHA:1373, and MedGen C1861835. These codes help geneticists and researchers find the same condition across different databases. MalaCards+2Wikidoc+2
Types
Doctors have reported so few patients that no official subtypes of this syndrome are recognized. However, because some features vary in severity, clinicians may think in terms of practical “patterns” instead of strict types when they describe affected people or plan assessment. NCBI+2MalaCards+2
One practical pattern is a “classic triad” presentation, in which a child has early cataracts, many abnormal oral frenula, and clear growth delay, together with the typical facial features described in the original family (up-slanting eye openings, epicanthal folds, small nose, and posteriorly angulated ears). In this pattern, the combination of eye, mouth, and growth problems strongly suggests this specific syndrome rather than a more common isolated cataract or short-stature condition. NCBI+2PubMed+2
A second practical pattern might be “eye-dominant” disease, where cataracts and subtle facial changes are obvious, but growth delay or oral frenula changes are mild or are only noticed when a dentist or geneticist performs a detailed exam. This idea comes from the general observation that in many genetic cataract syndromes, the eye findings are often picked up first, and other features are recognized only after targeted examination. EyeWiki+2PMC+2
A third pattern could be “multi-system involvement”, where, in addition to the triad, a person has cavernous hemangiomas, hernias, and possibly other organ abnormalities listed in Orphanet (such as cardiovascular or musculoskeletal findings). In such cases, the syndrome behaves like a broader multiple-anomaly condition and may require coordination between ophthalmology, genetics, pediatrics, surgery, and dentistry. This grouping is descriptive and not an official subtype, but it can help think about severity and follow-up needs. NCBI+2Eurofins Biomnis Connect+2
Causes
Because the syndrome is so rare, the main known cause is a hereditary genetic change; other “causes” below are better described as factors that explain how this genetic change appears, is passed on, or affects the body. Only the first few items are directly supported by case reports; later items come from general principles of genetic and growth disorders.
1. Autosomal dominant inheritance
The original family showed the syndrome in a mother and two of her children, in a pattern consistent with autosomal dominant inheritance, meaning one altered copy of a gene from an affected parent is enough to cause the condition in a child. NCBI+2MalaCards+2
2. Single-gene mutation (exact gene not yet clearly defined)
Major databases list the syndrome as a single-gene (monogenic) disorder but do not yet agree on a specific gene, and Malacards currently lists no confirmed associated gene. This tells us the cause is almost certainly a change in one gene, but the exact gene is still uncertain in mainstream resources. MalaCards+2NCBI+2
3. Possible CABYR gene involvement (unconfirmed)
One online rare-disease summary suggests that mutations in the CABYR gene may cause cataract-aberrant oral frenula-growth delay syndrome, but this claim is not yet supported by major curated databases; so if CABYR is involved, it is still a research hypothesis rather than a firmly established fact. Web Health Network+2MalaCards+2
4. De novo mutation in the first affected person
Even in autosomal dominant conditions, the very first affected person in a family often carries a new (de novo) mutation that arose in an egg, sperm, or very early embryo. This principle is well known in many dysmorphic and congenital cataract syndromes, so it is likely but not proven for this condition as well. PMC+2ResearchGate+2
5. Disruption of lens development leading to congenital cataract
The gene change must interfere with normal lens development and clarity, because all reported patients have cataracts, often of posterior polar type. Congenital cataracts themselves are highly heterogeneous genetically, and many genes that regulate lens proteins or transparency can be involved in cataract syndromes. EyeWiki+2EyeWiki+2
6. Abnormal formation of oral frenula and oral soft tissues
The same or closely linked genetic pathway likely affects the membranes that form the lip and cheek frenula, leading to numerous frenula in unusual positions. Abnormal frenula are recognized markers in several syndromes, and they can disturb normal oral function and dental development. NCBI+2PMC+2
7. Altered craniofacial patterning and facial morphogenesis
The characteristic facial appearance (up-slanting palpebral fissures, small upturned nose, ear shape changes) suggests that the gene plays a role in early craniofacial development, similar to other genetic dysmorphic conditions in which facial shape and soft-tissue structures develop abnormally. NCBI+2MalaCards+2
8. Disturbance of growth regulation pathways
Short stature and growth delay suggest that the genetic change may interfere with hormonal or cellular signals that control body growth, directly or indirectly. In general, children with unexplained short stature often have subtle genetic changes affecting growth hormone pathways, cartilage development, or bone growth; this syndrome likely intersects with those pathways in some way. PMC+2bsped.org.uk+2
9. Variable expressivity of the same mutation
Even within a single autosomal dominant family, the same mutation can show different “strength” of features (variable expressivity). This may explain why some affected people have more pronounced hemangiomas or hernias than others, even though they share the same core syndrome. NCBI+2MalaCards+2
10. Incomplete penetrance in some carriers
In many autosomal dominant cataract syndromes, some people who carry the mutation show mild or no obvious symptoms (incomplete penetrance). This may also apply here and could explain why the condition appears extremely rare or might be missed in family members with only mild cataract or subtle oral findings. dynamedex.com+2EyeWiki+2
11. Genetic background and modifier genes
Other genes may modify how strongly the main mutation expresses itself, changing the severity of cataracts, the number of oral frenula, or the degree of growth delay. Such modifier effects are known in many congenital malformation syndromes, even if the exact modifiers for this condition are not yet known. PMC+2ScienceDirect+2
12. Epigenetic influences
Epigenetic changes (chemical marks on DNA and histones that do not change the DNA code) can alter how a gene is switched on or off. In genetic growth and cataract disorders, epigenetic variation is increasingly recognized as one factor that can alter severity, although specific epigenetic mechanisms have not yet been described for this particular syndrome. ScienceDirect+2PMC+2
13. General mutation risk related to parental age (theoretical)
In many genetic conditions, higher parental age, especially paternal age, slightly increases the chance of new mutations. This has not been specifically studied in cataract-aberrant oral frenula-growth delay syndrome, but it is a general principle that might affect the risk of a de novo mutation. ScienceDirect+2ResearchGate+2
14. Shared pathways with other congenital cataract syndromes
The syndrome sits in a wider group of genetic cataract disorders, and it may share molecular pathways with them, such as stress on lens proteins, disruption of cell-cell junctions in the lens, or abnormal development of the eye’s anterior segment. MalaCards+2EyeWiki+2
15. Effects on connective tissue and blood vessels
The presence of cavernous hemangiomas and hernias suggests that the gene change may weaken connective tissue or alter blood-vessel growth, predisposing to these additional structural problems in skin and body wall. Similar connective-tissue effects are seen in other dysmorphic syndromes with hemangiomas and hernias. NCBI+2Monarch Initiative+2
16. Prenatal developmental timing of the mutation’s effect
The eye, face, and oral cavity form very early in fetal life. If the gene is crucial during that specific window, even a single mutation present from conception can produce a stable pattern of anomalies that persists after birth. This is a general concept in congenital malformations, likely relevant here. iamg.in+2ScienceDirect+2
17. Nutritional and health factors as phenotype modifiers (not primary cause)
Poor nutrition or chronic illness do not cause this genetic syndrome, but they can worsen growth delay and make short stature more obvious. In all children with growth problems, doctors must check for nutritional causes alongside genetic causes to understand the full picture. mejfm.com+2medcell.org+2
18. Environmental influences on eye development (minor role)
Environmental factors, such as infections or toxins in pregnancy, can cause cataracts in other settings, but there is no evidence that they cause this specific syndrome. They may, however, add to the severity of eye damage if they occur in a fetus that already has this genetic condition. EyeWiki+2tjceo.com+2
19. Chance and developmental “noise”
Even with the same gene change, small random variations in early development can affect how tissues form. This “developmental noise” may contribute to differences in the number of frenula, the size of cataracts, or the presence of hemangiomas between individuals. This is a general principle inferred from many congenital anomaly syndromes. ScienceDirect+2iamg.in+2
20. Limited current knowledge and ongoing research
Finally, one “cause” of uncertainty is simply that only three individuals have been described; this leaves many questions unanswered about the underlying gene and mechanisms. As more children with similar features undergo modern genetic testing (such as exome or genome sequencing), our understanding of the exact causal gene and pathways is likely to improve. PubMed+2MalaCards+2
Symptoms
1. Congenital cataracts
All described patients have cataracts, often affecting the back part of the lens (posterior polar cataracts). These opacities scatter light and blur the image formed on the retina, which can cause poor visual development and amblyopia (lazy eye) if not treated early. NCBI+2MalaCards+2
2. Reduced visual acuity and visual disability
Because the lenses are cloudy from early life, children may have poor vision, trouble focusing, or nystagmus (small eye movements), and they often need cataract surgery in infancy or early childhood to give the visual system a chance to develop properly. EyeWiki+2Cureus+2
3. Numerous aberrant oral frenula
A striking sign is the presence of many small folds of tissue (frenula) inside the lips and cheeks, more numerous and differently placed than in most people. Abnormal oral frenula are known markers in several syndromes and can interfere with oral hygiene, tooth spacing, or gum health. NCBI+2PMC+2
4. Short stature and growth delay
Affected individuals are shorter than expected for their age, and growth charts show a slower growth rate over time. This short stature appears to be part of the syndrome rather than due to malnutrition or other common causes, so it is classified as a syndromic growth abnormality. NCBI+2Orpha.net+2
5. Up-slanting palpebral fissures
The openings of the eyelids (palpebral fissures) may slant upward toward the outer corners, giving a characteristic eye shape that contributes to the facial “gestalt” recognized by dysmorphologists in this syndrome. NCBI+2MalaCards+2
6. Short palpebral fissures and epicanthal folds
The eyelid openings can also be relatively short from side to side, and there may be small folds of skin at the inner corners of the eyes (epicanthal folds). These features are common in many genetic syndromes and, together with cataracts and growth delay, help distinguish this condition from isolated congenital cataracts. NCBI+2MalaCards+2
7. Ptosis (drooping eyelids)
Some patients have ptosis, in which the upper eyelids droop and partially cover the pupil. This can further reduce vision in addition to the cataract, so it often needs careful monitoring and sometimes surgical correction. NCBI+2MalaCards+2
8. Small, upturned nose
The nose is often small with an upturned tip. This may not cause functional problems, but it adds to the distinctive facial appearance that alerts clinicians to the possibility of an underlying genetic syndrome. NCBI+2MalaCards+2
9. Posteriorly angulated ears with lobule creases
The ears may be rotated backward (posteriorly angulated), and the earlobes can show creases. Ear shape is a frequent clue in dysmorphology, and in this syndrome, these ear changes occur together with the other facial and oral features. NCBI+2MalaCards+2
10. Curly, coarse hair
Some descriptions mention curly, coarse hair, which may be lighter in color. Hair texture changes are not dangerous but can be helpful in recognizing the pattern of the syndrome. MalaCards+2Monarch Initiative+2
11. Cavernous hemangiomas
Cavernous hemangiomas are benign clusters of enlarged blood vessels in the skin or deeper tissues. In this syndrome, such lesions have been reported and add evidence that the underlying gene affects blood-vessel or connective-tissue development. NCBI+2Monarch Initiative+2
12. Hernias (such as umbilical or inguinal hernias)
Hernias occur when an internal organ or tissue pushes through a weak spot in the muscle wall. Their presence in this syndrome again suggests weak connective tissue in the abdominal wall or groin, which may require surgical repair in childhood. NCBI+2Monarch Initiative+2
13. Oral and dental functional problems
Multiple or abnormally attached frenula can make breastfeeding, chewing, or speaking more difficult, or cause gaps between front teeth and gum problems, as seen in other frenulum disorders. Even though these exact issues have not been detailed in the small number of reported patients, clinicians watch for them because similar frenulum abnormalities are known to affect function. Cleveland Clinic+2PMC+2
14. Psychosocial impact of visible anomalies
The combination of unusual facial features, short stature, and eye problems can affect a child’s self-esteem and social experiences, especially as they grow older. This psychosocial burden is well described in many dysmorphic and congenital anomaly syndromes and is likely relevant here too, even if not specifically reported. PMC+2ScienceDirect+2
15. Developmental challenges secondary to vision and growth issues
Although this syndrome is classified in a group “without intellectual disability,” visual impairment from early cataracts and the physical challenges of short stature can still lead to delays in motor skills or school performance if not well supported. Early cataract surgery and good visual rehabilitation can reduce these secondary developmental effects. NCBI+2EyeWiki+2
Diagnostic tests
1. Detailed history and physical examination
A careful medical history (including pregnancy history and family history of cataracts, oral anomalies, or short stature) and a head-to-toe physical exam are the first and most important “tests.” They allow the clinician to document cataracts, facial features, oral frenula patterns, growth delay, and any hemangiomas or hernias. PMC+2Better Safer Care+2
2. Growth charting and anthropometric measurements
Height, weight, head circumference, body proportions, and growth velocity are plotted on standardized growth charts. Persistent height below the 3rd percentile or falling off the usual growth line supports true growth delay rather than a one-time variation. AAFP+2PMC+2
3. Dysmorphology examination of the face, ears, and mouth
A clinical geneticist or trained pediatrician examines detailed facial features, ear shape and position, and the number and location of oral frenula. This structured dysmorphology assessment is standard in children with multiple congenital anomalies and helps distinguish this syndrome from other genetic conditions. PMC+2iamg.in+2
4. General developmental and functional assessment
Simple bedside tests of motor skills, communication, daily activities, and behavior help determine whether vision problems or physical differences are affecting development. These assessments guide referrals to early intervention, physical therapy, or vision services. ScienceDirect+2ResearchGate+2
5. Red reflex examination of the eyes
With a hand-held light or ophthalmoscope, the doctor checks the “red reflex” from the back of each eye. An absent or abnormal red reflex in infancy is a key screening sign for congenital cataracts and prompts urgent ophthalmologic evaluation. EyeWiki+2British and Irish Orthoptic Journal+2
6. Slit-lamp examination of the lens
An ophthalmologist examines the lens with a slit-lamp microscope (or a portable slit lamp in very young children) to confirm the presence, location, and type of cataract. This exam is crucial for planning surgery and for distinguishing this syndrome from other cataract types. PMC+2PLOS+2
7. Detailed oral and dental examination of frenula
A dentist or oral specialist inspects the lips, cheeks, gums, and tongue, lifting the lips and performing tests such as the blanch test to see how far the frenula extend and whether they affect tooth spacing or gum health. This type of exam is standard for identifying abnormal frenulum attachments. PMC+2Today’s RDH+2
8. Musculoskeletal and joint examination
The clinician manually checks spine posture, joint range of motion, limb proportions, and muscle tone to identify any associated skeletal abnormalities or muscle issues that can be part of broader genetic growth syndromes. iamg.in+2ScienceDirect+2
9. Basic blood tests (complete blood count and chemistry panel)
Routine laboratory tests such as a complete blood count, inflammatory markers, and basic biochemistry help rule out anemia, chronic inflammation, malabsorption, kidney or liver disease, and other common non-genetic causes of poor growth. mejfm.com+2medcell.org+2
10. Endocrine tests for growth and thyroid function
Tests such as thyroid-stimulating hormone (TSH), free thyroxine (T4), insulin-like growth factor-1 (IGF-1), and sometimes growth hormone stimulation studies are used to rule out endocrine causes of short stature, which might coexist or mimic features of this syndrome. Medscape+2PMC+2
11. Nutritional and metabolic laboratory studies
Measurements of iron, vitamin D, vitamin B12, and other nutritional and metabolic markers help ensure that treatable nutritional deficiencies are not contributing to growth delay or overall health problems. mejfm.com+2medcell.org+2
12. Chromosomal microarray or karyotype
Chromosome studies can detect large deletions, duplications, or rearrangements that cause many multiple-anomaly syndromes. Even if the classic triad suggests this specific syndrome, chromosomal microarray is often part of the standard work-up in a child with several congenital anomalies. Infant Journal+2iamg.in+2
13. Targeted congenital cataract gene panel
A next-generation sequencing panel of known cataract genes can help rule out other defined cataract syndromes such as Nance–Horan syndrome or other hereditary cataracts. Some commercial labs already offer panels that include cataract-aberrant oral frenula-growth delay syndrome among the conditions they test for. Eurofins Biomnis Connect+2Eurofins Biomnis Connect+2
14. Exome or genome sequencing
If panel testing is negative or if a broader answer is needed, exome or genome sequencing may identify the exact gene variant in an affected child, which can confirm the diagnosis, clarify recurrence risk, and potentially link the case to others in research networks. PMC+2bsped.org.uk+2
15. Visual evoked potentials (VEP)
VEP tests measure the electrical response of the brain’s visual cortex to visual patterns or flashes. They are especially helpful in infants and young children who cannot reliably perform standard vision tests, and they help quantify how much visual function is affected by cataracts or amblyopia. PMC+2MDPI+2
16. Electroretinography (ERG)
ERG records electrical responses from the retina. In a child with cataracts and poor vision, ERG can help rule out additional retinal diseases and clarify whether the main problem is the cloudy lens or a deeper retinal issue, which can be important for prognosis. ScienceDirect+2BioMed Central+2
17. Electrocardiogram (ECG)
Because Orphanet lists this condition under therapeutic areas that include possible cardiovascular abnormalities, a simple ECG is sometimes used to screen for conduction or rhythm problems, especially if there are symptoms such as fainting or palpitations. Eurofins Biomnis Connect+2ScienceDirect+2
18. Ocular imaging (ultrasound B-scan or optical coherence tomography)
When cataracts are dense and block the view to the back of the eye, ultrasound or optical imaging is used to look at the retina and optic nerve before surgery. These tests help surgeons plan the operation and predict visual outcomes. PLOS+2tjceo.com+2
19. Skeletal radiographs
X-rays of the spine and limbs can be taken if there is suspicion of skeletal anomalies such as curvature of the spine or abnormal bone proportions. Skeletal surveys are standard in many children with multiple congenital anomalies and may be considered here if the musculoskeletal exam is abnormal. iamg.in+2Infant Journal+2
20. Abdominal ultrasound or other body imaging
Ultrasound or other imaging techniques may be used to evaluate abdominal organs and the abdominal wall when hernias, hemangiomas, or other internal anomalies are suspected. This helps plan surgery and monitor for complications associated with the syndrome. NCBI+2Monarch Initiative+2
Non-pharmacological (non-drug) treatments
Regular pediatric ophthalmology follow-up
Frequent eye checks by a pediatric ophthalmologist are central to care. The doctor monitors cataract density, visual acuity and eye pressure, and decides the best timing of surgery to prevent amblyopia (lazy eye). Early, well-timed cataract surgery, combined with optical correction, is the main way to protect sight in children with congenital cataracts.EyeWiki+1Amblyopia therapy (patching or blurring)
After cataract removal, vision in the operated eye may be weaker than the other eye. Patching the stronger eye for a set number of hours per day, or using atropine drops in the stronger eye, forces the brain to use the weaker eye and helps normal visual development. Amblyopia therapy is standard after pediatric cataract surgery to reduce long-term visual disability.EyeWiki+1Low-vision rehabilitation
If vision cannot be fully normalized, low-vision services teach the child to use remaining vision as efficiently as possible. This may include magnifiers, high-contrast books, large-print materials, good lighting and classroom adaptations. Low-vision rehabilitation improves school performance, independence and quality of life for children with irreversible visual impairment.EyeWiki+1Physiotherapy and motor-skills training
Growth delay and visual problems can affect gross motor skills such as sitting, walking and balance. Physiotherapists design exercises to strengthen muscles, improve coordination and prevent contractures. Early, play-based physiotherapy is widely recommended in children with developmental delay to support mobility and reduce long-term disability.Journal of Clinical Medical Case Reports+1Occupational therapy (daily-living skills)
Occupational therapists help the child learn age-appropriate daily tasks such as dressing, feeding, writing and using school tools. They adapt the environment (special cutlery, seat supports, writing aids) to match the child’s abilities. In children with physical or visual impairment, occupational therapy is a key non-drug intervention to improve independence and school participation.Journal of Clinical Medical Case Reports+1Speech and feeding therapy
Abnormal oral frenula and facial features may interfere with sucking, chewing, swallowing and speech. Speech-language therapists teach safe swallowing techniques, feeding positions and oral-motor exercises, and later work on articulation and language skills. In many congenital syndromes with oral anomalies, early speech and feeding therapy reduces aspiration risk and improves communication.PubMed+1Dental and orthodontic care
Aberrant oral frenula can cause dental crowding, gum problems and difficulty cleaning teeth. Regular dental visits, frenectomy (surgical release of tight frenula) and orthodontic planning support oral health and speech. Experience from syndromes like Nance–Horan and other dental-facial disorders shows that coordinated dental-orthodontic care greatly improves function and appearance.OUP Academic+1Nutritional assessment and growth optimization
Dietitians assess calorie, protein, vitamin D, calcium and zinc intakes, because deficiencies can worsen growth retardation. Correcting vitamin D and zinc deficiency is known to improve bone health and linear growth in children with growth delay from other causes; the same principles are applied here.Pediatric Oncall+4NASPGHAN+4ScienceDirect+4Early developmental and special-education support
Even if intelligence is usually normal, short stature, visual problems and surgeries can affect school readiness. Early-intervention programs and individualized education plans (IEPs) give extra support with learning, mobility and classroom access. For many rare congenital syndromes, early developmental support improves long-term educational and vocational outcomes.NCBI+2Orpha.net+2Psychological and family counseling
A rare genetic diagnosis can be stressful for parents and older children. Psychologists and social workers provide emotional support, teach coping skills and connect families with rare-disease support organizations. Studies in many rare pediatric syndromes show that psychosocial support improves parental mental health and helps families adhere to medical plans.stage.webhealthnetwork.com+1Genetic counseling
Because this syndrome appears autosomal dominant, each child of an affected parent has a 50% chance of inheriting the condition. Genetic counseling explains inheritance, recurrence risk and prenatal or preimplantation testing options. This is standard for rare congenital cataract syndromes and helps families make informed reproductive decisions.NCBI+2Monarch Initiative+2Sun and UV protection for eyes
After cataract surgery, the eye may be more sensitive to light, and long-term UV exposure may harm the retina. Sunglasses with UV protection, wide-brimmed hats and UV-blocking lenses are low-risk measures commonly recommended in pediatric cataract guidelines to improve comfort and protect ocular tissues.EyeWiki+1Hernia repair and abdominal-wall support (non-drug aspects)
If hernias are present, pediatric surgeons usually recommend timely repair to prevent bowel trapping. Before and after surgery, activity modification and avoiding heavy straining help reduce complications. Management follows general pediatric hernia principles, which are well-established although not specific to this syndrome.NCBI+1Monitoring and treating cavernous hemangiomas
Cavernous hemangiomas may occur on skin or internally. Small, asymptomatic lesions are monitored, while larger or complicated ones may need laser therapy, surgery, or systemic treatments. Approaches mirror general pediatric hemangioma guidelines, emphasizing individualized risk-benefit assessment.NCBI+1Posture and bone-health programs
Growth delay, visual impairment and possible skeletal anomalies increase risk of poor posture and low bone density. Weight-bearing exercises, safe physical activity, adequate calcium and vitamin D intake, and posture training are non-drug strategies widely recommended to support skeletal health in children with chronic conditions.NASPGHAN+1Infection prevention and vaccination
Because visual impairment and surgeries can increase infection risks, strict hand hygiene, complete routine immunizations and timely treatment of respiratory or ear infections are essential. General pediatric evidence shows that vaccination and hygiene significantly reduce morbidity in children with chronic medical problems.Royal Children’s Hospital+1Assistive technology (AT)
Screen readers, high-contrast screens, audio books and tactile learning tools help children with visual limitations participate fully in school and daily life. AT is now a standard part of care in pediatric low-vision rehabilitation and improves educational inclusion.EyeWiki+1Family training in home eye and growth care
Parents are taught how to apply eye drops, clean eyelids, use glasses or contact lenses safely and encourage good nutrition and exercise. Family-centered education is strongly associated with better adherence and outcomes in chronic pediatric eye and growth disorders.EyeWiki+1Coordination in a multidisciplinary clinic
Due to multiple organ involvement, children benefit from combined clinics including ophthalmology, pediatrics, endocrinology, dentistry, genetics and rehabilitation. Multidisciplinary care is considered best practice in complex congenital syndromes because it avoids fragmented treatment.E2G+1Patient and caregiver peer-support networks
Connecting with other families living with congenital cataract and rare syndromes reduces isolation and shares practical coping strategies. Rare-disease organizations and online groups are recommended in many guidelines as low-cost, high-impact psychosocial interventions.stage.webhealthnetwork.com+1
Drug treatments
Very important: No medicine can cure the underlying gene defect. The drugs below are used to treat common complications (eye inflammation, infection, high eye pressure, growth delay) and must only be prescribed and monitored by specialists. Selections and dosing are examples; they must be individualized.
Prednisolone acetate 1% ophthalmic suspension
Prednisolone acetate eye drops (e.g., PRED FORTE®, OMNIPRED®) are corticosteroids used after cataract surgery to control anterior eye inflammation. Typical pediatric regimens involve 1–2 drops several times daily, tapered over weeks. They work by blocking inflammatory mediators like prostaglandins. Main risks are raised intraocular pressure, cataract progression and infection masking, so eye-pressure monitoring is essential.FDA Access Data+2FDA Access Data+2Rimexolone 1% ophthalmic suspension
Rimexolone (Vexol® 1%) is another topical corticosteroid for anterior chamber inflammation after cataract surgery. It is usually dosed as 1–2 drops multiple times daily for a limited period, then tapered. Like prednisolone, it reduces edema and cellular infiltration but still carries risks of glaucoma and delayed corneal healing, so use is carefully supervised.FDA Access DataMoxifloxacin 0.5% ophthalmic solution (Vigamox®)
Moxifloxacin eye drops are broad-spectrum fluoroquinolone antibiotics used to treat or prevent bacterial conjunctivitis and post-operative infections. Typical dosing is one drop three times daily for about a week. They inhibit bacterial DNA gyrase and topoisomerase IV, blocking replication. Side effects are usually mild (eye irritation, transient discomfort), but hypersensitivity reactions can occur.FDA Access Data+2FDA Access Data+2Moxifloxacin 0.5% ophthalmic solution (Moxeza™)
Moxeza™ is another moxifloxacin formulation approved for bacterial conjunctivitis, dosed twice daily in many regimens, which can improve adherence in children. Mechanism and safety profile are similar to Vigamox®, with local irritation the most common adverse event. Doctors choose among formulations based on age, dosing convenience and local resistance patterns.FDA Access Data+1Gentamicin–prednisolone combination (PRED-G®)
PRED-G® eye drops combine the aminoglycoside antibiotic gentamicin with prednisolone acetate. They are used when both inflammation and risk of bacterial infection are present. The antibiotic component inhibits bacterial protein synthesis, while the steroid reduces inflammation. Potential side effects include corneal toxicity, increased eye pressure and delayed healing, so duration is limited.FDA Access DataTimolol maleate ophthalmic solution (Timoptic®)
Timolol maleate eye drops are non-selective beta-blockers used to lower intraocular pressure in glaucoma or ocular hypertension, which can complicate pediatric cataract surgery. Usual dosing is one drop once or twice daily. Timolol decreases aqueous humor production. Side effects may include bronchospasm, bradycardia and hypotension, so it is avoided in asthma or severe heart disease.FDA Access Data+2FDA Access Data+2Timolol gel-forming ophthalmic solution
Gel-forming timolol preparations provide prolonged contact time, allowing once-daily dosing while maintaining pressure control. This can improve adherence in children who resist frequent drops. Risks and contraindications are the same as other topical beta-blockers, so systemic history must be reviewed carefully before prescribing.FDA Access Data+1Timolol maleate ophthalmic solution (Istalol®)
Istalol® is another timolol formulation indicated for elevated intraocular pressure. Once-daily morning dosing is common. Choice among timolol brands is based on availability, tolerability and clinician experience, but all require monitoring for respiratory and cardiac side effects, especially in young or medically complex children.FDA Access Data+1Dorzolamide–timolol combination (Cosopt®)
Cosopt® combines the carbonic anhydrase inhibitor dorzolamide with timolol to lower intraocular pressure through reduced aqueous production and improved outflow. It is normally dosed as one drop twice daily. Common adverse effects are burning, bitter taste and, rarely, systemic beta-blocker effects, so it is reserved for cases needing stronger pressure control.FDA Access Data+1Atropine sulfate 1% ophthalmic solution
Atropine 1% eye drops dilate the pupil and paralyze accommodation (cycloplegia). They may be used in amblyopia therapy or post-surgical care to reduce ciliary spasm and pain. Typical pediatric regimens are one drop once daily or a few times per week, depending on indication. Adverse reactions include light sensitivity, blurred near vision and, rarely, systemic anticholinergic effects such as flushing and tachycardia.FDA Access Data+3FDA Access Data+3FDA Access Data+3Somatropin (recombinant human growth hormone – several brands)
Somatropin injections (e.g., Norditropin®, Genotropin®, Humatrope®, Omnitrope®) are approved for pediatric growth failure due to growth hormone deficiency and certain syndromes.FDA Access Data+5FDA Access Data+5FDA Access Data+5 In a child with this syndrome and proven growth hormone deficiency, endocrinologists may consider once-daily subcutaneous somatropin with dose adjusted by weight and growth response. Potential side effects include headache, intracranial hypertension, slipped capital femoral epiphysis and glucose intolerance.Parenteral pediatric multivitamin (M.V.I. Pediatric®)
In children who require long-term parenteral nutrition due to severe feeding difficulties or surgery, M.V.I. Pediatric® supplies essential vitamins intravenously. It supports overall growth, immunity and tissue repair when oral intake is inadequate. This product is used only under hospital supervision, with attention to compatibility and risk of infusion reactions or vitamin overload.FDA Access Data+1
(Because this syndrome is ultra-rare and has no specific drug trials, clinicians typically select a small number of these medicines tailored to each child’s eyes, growth status and general health. No child will receive all of them.)
Dietary molecular supplements
Supplements should never replace balanced diet or prescribed medicines. Always ask the child’s doctors before starting any product, especially in very rare syndromes.
Vitamin D3 (cholecalciferol)
Vitamin D is crucial for calcium absorption and normal bone growth. Deficiency clearly causes rickets, bone pain and growth retardation in children.NASPGHAN+1 Doctors may prescribe daily or weekly vitamin D3 drops or tablets, with doses based on blood levels and guidelines. Correcting deficiency supports linear growth and skeletal strength, helping to reduce fracture risk in a child whose growth is already compromised by a genetic syndrome.Calcium supplementation
Calcium works with vitamin D to mineralize bone. In children with poor intake or malabsorption, calcium supplements help build stronger bones and may reduce deformities linked to long-term growth delay. Pediatric doses are weight-based and should account for dietary intake to avoid excessive calcium, which can cause constipation and, rarely, kidney stones.NASPGHAN+1Zinc supplementation
Zinc is essential for cell division, immune function and growth. Multiple studies show that zinc deficiency contributes to stunting and growth retardation; supplementation can modestly improve linear growth in deficient children.Genetics and Molecular Research+3PubMed+3World Health Organization+3 Typical pediatric doses are low and time-limited. Excess zinc may cause nausea, abdominal pain and copper deficiency, so medical supervision is important.Balanced multivitamin–mineral preparations
Daily multivitamins can help fill small dietary gaps in vitamins A, C, E, B-complex and trace minerals important for immunity and tissue repair. Observational data suggest that long-term multivitamin use may modestly reduce cataract risk in some populations, although effects are small and not disease-specific.FDA Access Data+3sciencebasedhealth.com+3ScienceDirect+3 Doses should stay within age-appropriate recommended daily allowances.Lutein and zeaxanthin
Lutein and zeaxanthin are carotenoids concentrated in the retina. Clinical studies show that supplementation can improve macular pigment and aspects of visual function in some eye conditions and screen users.Annual Reviews+3PMC+3Frontiers+3 Typical supplements provide about 10 mg lutein and 2 mg zeaxanthin daily. They act as antioxidants and blue-light filters, potentially supporting retinal health in children with lens abnormalities.Omega-3 long-chain fatty acids (DHA/EPA)
Omega-3 fatty acids are structural components of retinal cell membranes and modulate inflammation. Trials in age-related macular degeneration show mixed results, but omega-3s can support general cardiovascular and retinal health.JAMA Network+2PubMed+2 Pediatric doses are usually weight-based fish oil or algal DHA. Side effects are mostly mild (fishy aftertaste, loose stools), but high doses may affect bleeding risk.Antioxidant vitamins C and E
Vitamins C and E help neutralize oxidative stress in ocular tissues. Some cohort and clinical data link higher combined antioxidant intake with reduced risk of certain cataract types and macular degeneration, although AREDS trials did not show strong cataract protection.MDPI+4National Eye Institute+4Age Related Eye Diseases+4 Age-appropriate doses should not exceed recommended upper limits because excessive vitamin E can cause bleeding problems.FDA Access Data+1Carotenoid-rich foods or supplements (beta-carotene as part of diet)
Carotenoids from colorful fruits and vegetables support general eye and immune health. Evidence from eye-disease studies suggests that diets high in mixed antioxidants and carotenoids are associated with lower rates of some lens and retinal diseases.ScienceDirect+2EyeDocs+2 In children, it is safer to emphasize food-based carotenoids rather than high-dose supplements, especially in families with smokers.National Eye Institute+1Protein-energy nutritional supplements
If a child is underweight or eats poorly due to oral anomalies, high-calorie, high-protein drinks or powders can support weight gain and height velocity. Protein supplies amino acids for muscle and bone growth, and sufficient calories prevent the body from breaking down lean tissue. Formulas and doses are chosen by dietitians based on growth charts and tolerance.Liv Hospital+1Probiotic supplements (case-by-case)
Probiotics may support gut health and nutrient absorption, which indirectly influences growth and immunity. Evidence in children with malnutrition and chronic illnesses suggests some benefit in reducing diarrheal episodes, although data are not specific to this syndrome. Dosing, strain selection and duration should be directed by a pediatrician, especially in immunocompromised patients.World Health Organization+1
Immune-supporting / regenerative / stem-cell-related drugs
There are no stem-cell drugs or immune boosters specifically approved for cataract-aberrant oral frenula-growth delay syndrome. The options below are used in other conditions and are mentioned only to explain principles; they must not be started without specialist advice.
Somatropin (recombinant human growth hormone)
As noted above, somatropin is licensed for growth hormone deficiency and several syndromic short-stature conditions.FDA Access Data+5FDA Access Data+5FDA Access Data+5 It indirectly supports “regeneration” by stimulating bone and cartilage growth plates. Dosing is daily or weekly subcutaneous injection, titrated by weight and insulin-like growth factor-1 (IGF-1) levels. It is considered only when true hormone deficiency or an approved indication is documented.Vitamin D as an immune and bone modulator
Vitamin D plays a dual role in bone mineralization and immune function. Deficiency is associated with infections and growth failure; correcting it can improve bone structure and possibly immune resilience.Healthline+3NASPGHAN+3ScienceDirect+3 High-dose regimens (“stoss therapy”) are sometimes used under specialist supervision, followed by maintenance doses.Zinc as an immune-support micronutrient
Zinc supports innate and adaptive immunity, wound healing and growth. Supplementing deficient children improves growth and may reduce infection risk.Genetics and Molecular Research+4PubMed+4World Health Organization+4 It is not a “drug” in the classic sense, but it acts at molecular level in hundreds of enzymes and transcription factors. Over-supplementation can be harmful, so medical monitoring is essential.Future/regenerative approaches (experimental)
In research settings, stem-cell-based therapies for lens regeneration and ocular surface repair are being explored in other eye diseases, but these are experimental and not standard care for this or other pediatric cataract syndromes. Current good practice is to use proven surgical lens extraction with optical correction rather than unproven regenerative drugs.EyeWiki+1
(Because of safety and ethical issues, any “regenerative” or immune-modulating drug must be prescribed only within established, evidence-based indications – not solely because the child has this rare syndrome.)
Surgeries
Pediatric cataract extraction with or without intra-ocular lens (IOL)
The main surgery is removal of the cloudy lens through a small incision. In older children an artificial lens is often implanted; in very young infants, contact lenses or glasses may be used instead. The goal is to clear the visual axis, prevent amblyopia and allow normal visual development. Timing and technique follow congenital cataract guidelines.EyeWiki+1Frenectomy or oral frenula release
If aberrant oral frenula restrict tongue movement, cause feeding problems, or interfere with dental alignment, a minor surgical procedure removes or repositions the tissue bands. This improves oral hygiene, speech articulation and feeding efficiency. The operation is usually short and can be done under local or general anesthesia depending on age and complexity.PubMed+1Hernia repair
Children with this syndrome may develop abdominal or inguinal hernias. Surgical repair closes the defect in the abdominal wall to prevent bowel from becoming trapped (strangulated), which can be life-threatening. Pediatric surgeons typically perform this as a planned, relatively brief procedure with high success rates.NCBI+1Excision or treatment of cavernous hemangiomas
Symptomatic or cosmetically troubling cavernous hemangiomas may be treated with surgical excision, laser therapy or, in some locations, interventional procedures. The purpose is to prevent bleeding, ulceration, functional impairment or psychological distress. Therapy choices depend on size, location and growth pattern of the lesion.NCBI+1Corrective procedures for associated skeletal or facial anomalies (case-by-case)
If the child has significant skeletal or facial anomalies affecting breathing, chewing or posture, orthopedic or craniofacial surgeons may propose corrective operations. Examples include spinal stabilization, limb deformity correction or jaw surgery. These are individualized and follow general principles used in other growth-delay and craniofacial syndromes.Wikipedia+3Wiley Online Library+3Wikipedia+3
Preventions
Because this is a genetic syndrome, we cannot fully prevent it once the gene variant is present, but we can reduce complications:
Preconception and prenatal counseling for known carrier parents.NCBI+1
Early newborn eye screening to detect cataracts quickly.EyeWiki+1
Prompt referral to pediatric ophthalmology if any eye cloudiness or poor visual behavior is noticed.EyeWiki
Maintaining adequate maternal and child nutrition, especially vitamin D, calcium and zinc.Pediatric Oncall+4NASPGHAN+4ScienceDirect+4
Up-to-date vaccinations and infection-prevention habits to reduce surgery delays and systemic illness.Royal Children’s Hospital+1
Regular growth-chart monitoring and early endocrinology referral if growth velocity falls.Liv Hospital+1
Routine dental and oral checks from infancy to manage frenula and tooth crowding.OUP Academic+1
Protective eyewear and avoidance of eye trauma, especially after cataract surgery.EyeWiki+1
Avoiding unnecessary systemic corticosteroids, which can worsen cataracts and bone health.FDA Access Data+1
Lifelong follow-up in a multidisciplinary clinic experienced with rare syndromes.E2G+2Eurofins Biomnis Connect+2
When to see doctors
Parents should seek medical care immediately or urgently if:
The child’s eye looks cloudy, whitish, very red or painful, or if there is sudden vision loss, strong light sensitivity, or eye trauma after surgery.EyeWiki+2FDA Access Data+2
The child is not fixing and following with the eyes, bumps into objects, or has wandering eyes or nystagmus.EyeWiki+1
Growth falls off the centile lines, or the child looks significantly shorter than peers and has poor weight gain or bone pain.Liv Hospital+2NASPGHAN+2
There are feeding difficulties (choking, coughing with feeds, poor weight gain) or speech delay related to oral anomalies.PubMed+1
A hernia bulge becomes painful, hard, or cannot be pushed back.Orpha.net
There are frequent serious infections, unexplained fevers, seizures, breathing troubles, or any sudden change in behavior or consciousness.Royal Children’s Hospital+1
Regular routine visits with pediatricians, ophthalmologists, dentists and endocrinologists are also essential even when the child seems well, to track growth, eye status and development.
What to eat and what to avoid
Good to eat (after approval from the child’s doctors):
Colorful fruits and vegetables such as spinach, kale, carrots, sweet potatoes, papaya and citrus provide vitamins A, C, lutein, zeaxanthin and antioxidants that support general eye and immune health.EatingWell+2ScienceDirect+2
Whole grains and legumes (brown rice, oats, beans, lentils) give slow-release energy, B vitamins and zinc, important for growth and immunity.World Health Organization+2Pediatric Oncall+2
High-quality proteins (eggs, dairy, fish, lean meat, soy) supply amino acids for muscle and bone growth; oily fish adds omega-3 fatty acids beneficial for eye and brain health.IOVS+1
Dairy or fortified alternatives (milk, yogurt, cheese or fortified plant milks) give calcium and often added vitamin D to support bone growth.NASPGHAN+1
Healthy fats (olive oil, nuts, seeds, avocado) help absorb fat-soluble vitamins and carotenoids like lutein and zeaxanthin.Annual Reviews+1
Best to limit or avoid (unless specialist says otherwise):
Sugary drinks and sweets, which add “empty calories” and displace nutrient-dense foods, worsening growth quality and dental health.FDA Access Data
Highly processed fast foods high in salt, trans fats and saturated fat, which can promote obesity and long-term cardiovascular risk without helping eye or growth health.ScienceDirect+1
Excessive vitamin supplements above recommended doses (especially vitamin A and E), which can be toxic or interact with medicines; doses must follow medical advice.Age Related Eye Diseases+3FDA Access Data+3FDA Access Data+3
Herbal or “miracle” eye or growth remedies without clinical evidence, which may delay proven treatments or cause side effects. Regulatory authorities repeatedly warn against untested products.FDA Access Data+1
Tobacco smoke exposure and, in older adolescents, alcohol – not foods, but important environmental “toxins” that can impair eye and overall health. Smoking also interacts with some carotenoid supplements in harmful ways.National Eye Institute+2Age Related Eye Diseases+2
Frequently asked questions (FAQs)
Is cataract-aberrant oral frenula-growth delay syndrome curable?
No. It is a genetic multiple-anomaly syndrome, so the underlying cause cannot be removed. However, cataracts, hernias, oral frenula and growth problems can often be treated individually, allowing many children to develop functional vision and good quality of life.NCBI+2PubMed+2How is this syndrome inherited?
Published reports suggest autosomal-dominant inheritance: one altered gene copy from an affected parent is enough to cause the syndrome. Each child of an affected parent has roughly a 50% chance of inheriting the condition, so genetic counseling is strongly recommended.NCBI+2Monarch Initiative+2Does every child with this syndrome have intellectual disability?
Not necessarily. Classification in some databases places it among dysmorphic syndromes without intellectual disability, although individual children may have learning difficulties related to vision or other complications. Early developmental assessment and support are important for each child.Wikipedia+3NCBI+3Monarch Initiative+3What is the main eye problem and how is it treated?
The main eye problem is cataract – a cloudy lens that blocks light from reaching the retina. In children, the key treatment is timely cataract extraction, often with intra-ocular lens implantation, followed by glasses or contact lenses and amblyopia therapy.EyeWiki+1Can cataracts come back after surgery?
The removed lens itself does not return, but children may develop posterior capsule opacification (“secondary cataract”) or other complications. These are usually treatable with laser or repeat procedures. Regular ophthalmology follow-up is essential to catch problems early.EyeWiki+1Why is growth delay present and can it be improved?
Growth delay appears to be part of the genetic syndrome and may be worsened by nutritional or hormonal factors. Careful nutritional support, correction of vitamin D and zinc deficiencies and, if indicated, growth hormone therapy can improve height velocity, though final height may still be below average.FDA Access Data+6NCBI+6NASPGHAN+6Is growth hormone always needed?
No. Somatropin is only considered if testing shows growth hormone deficiency or another approved indication. Many children with genetic short stature have normal hormone levels and do not benefit from growth hormone. Endocrinologists make this decision after detailed evaluation.FDA Access Data+5FDA Access Data+5FDA Access Data+5Are there special risks from eye medicines in children with this syndrome?
Risks are similar to other children with pediatric cataract: steroids may raise eye pressure, antibiotics can cause allergy, and beta-blocker drops may affect breathing or heart rate. Because the syndrome is rare and complex, ophthalmologists monitor closely and choose the lowest effective doses.FDA Access Data+4FDA Access Data+4FDA Access Data+4Can diet alone treat the eye or growth problems?
Diet and supplements are supportive but cannot remove cataracts or completely correct genetically determined short stature. They help the child reach their best possible growth and support healing after surgery but do not replace medical and surgical care.EatingWell+5NASPGHAN+5ScienceDirect+5Is this syndrome the same as other cataract–growth syndromes like Nance–Horan or Marinesco–Sjögren?
No. While they share some features (cataract, facial changes, growth issues), they have different genetic bases and associated findings (e.g., dental anomalies in Nance–Horan, ataxia in Marinesco–Sjögren).OUP Academic+2Wikipedia+2 Proper genetic diagnosis helps prognosis and family counseling.Will my child need multiple surgeries?
Many children will need at least cataract surgery and possibly oral frenula or hernia surgery. Additional procedures depend on individual findings and complications. Surgeons aim to combine needed operations when safe to reduce anesthetic exposures.EyeWiki+2PubMed+2What is the long-term outlook?
Because only a few cases are reported, long-term data are limited. With timely cataract surgery, good visual rehabilitation, and careful growth and dental management, many children can achieve functional vision and good participation in daily life, but close follow-up is lifelong.EyeWiki+3PubMed+3NCBI+3Can pregnancy be safely planned for an affected adult?
Affected adults should have pre-pregnancy counseling with genetics and high-risk obstetrics. They need to understand the 50% recurrence risk and discuss prenatal or preimplantation genetic testing options where available, plus any pregnancy risks related to their own health.NCBI+2Monarch Initiative+2Are there clinical trials for this specific syndrome?
As of now, no trials specifically target cataract-aberrant oral frenula-growth delay syndrome. However, children may be eligible for broader studies on congenital cataracts, pediatric low vision, or growth disorders. Families can discuss trial opportunities with their specialists or search rare-disease registries.Wiley Online Library+3Monarch Initiative+3E2G+3What is the most important thing parents can do?
The most important actions are: keep all follow-up appointments, give eye drops and medicines exactly as prescribed, support good nutrition, encourage normal play and development, and ask questions whenever something is unclear. Close partnership with a multidisciplinary care team gives the child the best chance to reach their full potential.ScienceDirect+3EyeWiki+3Journal of Clinical Medical Case Reports+3
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: November 15, 2025.
