Ausems Wittebol-Post Hennekam syndrome is an extremely rare genetic condition where a child is born with a cleft lip and slowly worsening disease of the light-sensing layer at the back of the eye (the retina). Doctors also call this “cleft lip–retinopathy syndrome”, because the two main problems are the split in the upper lip and progressive damage to the retina that can lead to visual impairment over time.
This syndrome is described as an autosomal recessive disorder, which means a child is affected when they inherit one faulty copy of the same gene from each parent. It is so rare that fewer than one person in a million is thought to have it worldwide, and most reported cases are recognised before birth or in early infancy.
Ausems Wittebol-Post Hennekam syndrome (also called cleft lip-retinopathy syndrome or cleft lip with progressive retinopathy) is an extremely rare genetic condition. It mainly combines a non-midline cleft lip (a split in the upper lip that is off the center) with slowly worsening disease of the light-sensing layer of the eye (progressive retinopathy, often cone-rod dystrophy). Children are usually born with the cleft lip, while the eye problems appear later and slowly reduce vision over time.[1]
The syndrome seems to follow autosomal recessive inheritance, which means a child usually inherits one non-working copy of the gene from each parent. Because only a few families have been reported worldwide, researchers still do not know the exact gene in most cases. Some research in very similar cleft-lip–retina syndromes points to problems in the enzyme hyaluronidase-2 (HYAL2), but this connection is still being studied and is not confirmed for every patient.[2]
Because only a very small number of families have been reported, doctors still do not know the exact gene or molecular pathway that causes this syndrome. Medical databases list it as a congenital malformation syndrome involving both the face and the eyes, and they note that no specific disease-gene link has yet been confirmed.
Other names
Doctors and rare-disease databases use several names for the same condition. All of these point to the same basic syndrome: a cleft lip together with retinal disease.
Ausems Wittebol-Post Hennekam syndrome
Ausems-Wittebol Post-Hennekam syndrome
Cleft lip–retinopathy syndrome
Cleft lip–progressive retinopathy syndrome
Cleft lip–cone-rod dystrophy syndrome
Cleft lip–retinopathy association
These different names reflect how the condition was first reported by individual clinicians and how later authors described the type of retinal damage (retinopathy or cone-rod dystrophy pattern) seen in affected children.
Types
There is no official, universally accepted “type 1 / type 2 / type 3” system for this syndrome, because so few patients have been described. However, based on published descriptions, clinicians can recognise a few practical patterns of how the face and eyes are affected.
Type 1 – Cleft lip with progressive retinopathy
In this pattern the child has a non-midline cleft of the upper lip together with slowly worsening retinopathy. Over time, the retina shows pigment changes and damage, and the child’s vision gradually becomes worse.Type 2 – Cleft lip with cone-rod dystrophy–like picture
Here the retinal problem behaves more like a cone-rod dystrophy. Central vision, colour vision and sensitivity to bright light are affected early, and later the rod cells for night and side (peripheral) vision may also degenerate.Type 3 – Cleft lip with stable retinal pigment abnormality
In a possible third pattern, the child has a cleft lip and abnormal pigment in the retina, but the changes progress very slowly. Vision may remain relatively stable for many years, although careful follow-up is always needed.
These “types” are a helpful clinical way to think about the condition, but they are not separate genetic diseases. They are patterns within the same extremely rare syndrome.
Causes
Because so little is known, only one broad cause is clearly proven: this is a very rare autosomal recessive genetic syndrome. The other “causes” below are best understood as possible mechanisms or risk factors that may contribute, based on what we know about cleft lip and inherited retinal dystrophies in general.
Autosomal recessive inheritance
The main cause is an autosomal recessive inheritance pattern. Both parents silently carry one altered copy of a gene, and when a child receives both altered copies, the syndrome appears with cleft lip and retinal disease.Unknown rare gene defect
Databases show that no specific gene has yet been confirmed for this syndrome, which suggests that a very rare, yet-unidentified gene important for lip formation and retinal development is affected.Abnormal embryonic fusion of the upper lip
Cleft lip happens when tissues of the upper lip fail to join properly during early pregnancy. In this syndrome, the same early development period may also be critical for retinal formation, linking the two features.Disrupted retinal pigment epithelium development
Many patients have abnormal retinal pigmentation, which suggests that the supporting pigment layer under the photoreceptors does not develop or function normally because of the underlying genetic defect.Cone-rod photoreceptor dysfunction
In some reports, the retinal problem behaves like a cone-rod dystrophy, where cone and rod cells gradually degenerate. The same unknown gene may disturb photoreceptor survival, leading to progressive vision loss.Disturbed craniofacial signalling pathways
Many craniofacial syndromes arise from errors in signalling pathways that guide facial bone and soft-tissue growth. It is likely that a similar pathway is disrupted here, producing the cleft lip and possibly other subtle facial changes.Abnormal neural crest cell migration
Neural crest cells help form parts of the face and eye. If the responsible gene affects how these cells move or differentiate, a cleft lip and retinal anomalies can appear together in the same child.Genetic background of the parents (carriers)
Parents are usually healthy carriers, but their shared genetic background (for example in small or isolated communities) may increase the chance that both carry the same rare mutation.Consanguinity (blood-related parents)
In many rare autosomal recessive diseases, parents are related (such as cousins). This increases the chance that both inherited the same rare mutation from a common ancestor.Modifier genes for cleft lip
Several genes are already known to influence risk of cleft lip and palate. It is possible that the unknown syndrome gene interacts with these cleft genes, increasing the chance of a lip split in affected children.Modifier genes for retinal dystrophy
Similarly, many genes influence inherited retinal diseases. Even if the primary syndrome gene is unidentified, other “modifier” genes may shape how quickly the retina degenerates and how severe the vision loss becomes.Abnormal extracellular matrix in retina and lip
The extracellular matrix is the “scaffolding” around cells. If a gene controlling this matrix is faulty, both the lip fusion line and delicate retinal layers may become weak and prone to malformation or degeneration.Disturbed apoptosis (cell death) in the retina
Many retinal dystrophies involve abnormal programmed cell death of photoreceptors. A similar mechanism may underlie the progressive retinopathy in this syndrome, causing slowly worsening vision.Oxidative stress sensitivity in retinal cells
Inherited retinal disorders often make photoreceptors more vulnerable to oxidative damage from light and metabolism. A hidden gene defect here could explain the progressive retinal damage seen in this rare association.Vascular changes in the retina
Retinopathy often involves abnormal retinal blood vessels. Although not fully described in this syndrome, vascular changes are a likely part of the mechanism, contributing to gradual damage of the light-sensing layer.Shared developmental timing (antenatal onset)
The condition is classified as having antenatal onset, which means the key errors happen before birth. Facial and retinal tissues develop at similar times, so one genetic problem can affect both together.Non-genetic pregnancy influences (supporting role only)
General pregnancy factors such as infections, nutritional issues, or medicines are not thought to be primary causes here, but they may influence severity in a baby who already carries the underlying genetic change.Environmental light exposure in a genetically fragile retina
Once the child is born, normal light exposure may stress a retina that is already fragile because of the inherited defect, helping to drive progression of the retinopathy over time.Random (stochastic) developmental variation
Even with the same mutation, small random differences in embryonic development can make the cleft lip or retinal changes milder or more severe between individuals in the same family, contributing to variable expression.Still-unknown molecular pathways
Finally, it is important to say clearly that most detailed mechanisms are still unknown. Major disease resources list no confirmed gene or pathway, so ongoing research will be needed to identify the true molecular cause.
Symptoms
Non-midline cleft lip
The hallmark symptom is a cleft (split) in the upper lip that is not exactly in the middle. This visible split is present from birth and may affect feeding, appearance and speech development if not surgically repaired.Abnormal retinal pigmentation
Eye specialists see unusual patches or patterns of pigment in the retina during examination. These changes are a sign that the supporting layer under the photoreceptors is not normal and may be part of a progressive retinal disease.Retinopathy (general retinal disease)
“Retinopathy” means damage to the retina. In this syndrome, the retinopathy is progressive, which means it slowly worsens over time and can eventually lead to serious visual problems if not monitored closely.Visual impairment (reduced eyesight)
Many affected people develop poor vision, which may affect both central and peripheral sight. Children may have trouble seeing the board at school, reading, recognising faces at a distance, or moving around in dim light.Poor central vision
If the macula (the central part of the retina) is involved, the fine detail vision needed for reading or small object recognition becomes blurred or distorted, especially as the condition progresses with age.Difficulty with bright light (photophobia)
Children with cone or cone-rod problems often dislike bright light or sunlight. They may squint, turn away, or prefer dim rooms because their retinas cannot handle strong light comfortably.Problems with colour vision
Cone cells allow colour vision. When they are affected, colours may look faded, washed out, or hard to tell apart. This can show up when a child cannot match colours or fails on simple colour-vision cards.Night blindness (nyctalopia)
As rods are affected, some children have trouble seeing in dim light or at night. They may bump into objects, avoid dark places, or be slower to adapt when lights are turned off.Loss of side (peripheral) vision
Progressive retinal dystrophy often narrows the visual field, like looking through a tunnel. Children may appear clumsy or may not see objects or people approaching from the side.Nystagmus (involuntary eye movements)
Some children with retinal diseases develop nystagmus, where the eyes move rapidly or “wiggle” without control. This can make focusing difficult and may worsen visual clarity.Strabismus (misaligned eyes)
Eye misalignment can occur because the brain struggles to match images from both eyes when the retina is damaged. Parents may notice a “squint” or that one eye turns inwards or outwards.Refractive errors (short- or long-sightedness)
Children with retinal disease often also have focusing problems that need glasses, such as myopia or hyperopia. Correcting these errors will not cure the retina, but can give the clearest possible remaining vision.Feeding difficulties in infancy
A cleft lip can make it hard for a baby to latch properly during breast- or bottle-feeding. Parents may notice milk leaking from the nose or mouth, or the baby tiring quickly during feeds.Speech and articulation problems
As the child grows, the cleft lip (with or without palate involvement) can affect how sounds are formed. Early speech therapy and cleft repair surgery are often needed to improve articulation and communication.Emotional and social impact
Visible facial difference and progressive vision loss can cause emotional stress, low self-confidence, and social difficulties, especially during school years. Support from family, teachers, counsellors and low-vision services is very important.
Diagnostic tests
Because this syndrome is so rare, doctors usually diagnose it by putting together the physical findings (cleft lip), eye findings (retinopathy), and the pattern of inheritance. The tests below help confirm the diagnosis, rule out other conditions, and monitor eye health over time.
Physical examination tests
Full general and growth examination
A paediatrician examines the whole body, measures height, weight and head size, and looks for any other birth differences. This helps decide whether the child has only the cleft-lip-retinopathy association or a broader syndrome with other organ involvement.Detailed facial and oral examination
The doctor carefully inspects the upper lip, nose, gums and palate to document the exact type and side of the cleft. This is important for surgical planning and for matching the pattern to known cleft-lip syndromes.Basic eye inspection with torch or slit lamp
An eye doctor (ophthalmologist) uses a light and magnifier to look at the front of the eyes, eyelids and pupils. They check for any visible eye malformations, lens clouding or inflammation before moving to deeper retinal tests.Neurological and developmental examination
A neurologist or paediatrician checks muscle tone, reflexes, posture and developmental milestones. This helps rule out other syndromes where clefts and eye problems occur together with brain or nerve problems.
Manual (bedside) eye and function tests
Visual acuity testing (Snellen or age-appropriate charts)
The child looks at letters, symbols or pictures at a fixed distance to see how clearly they can see. This simple test tracks how central vision changes over time as the retinal disease progresses.Confrontation visual field test
The examiner sits in front of the child and moves fingers or small objects from the sides towards the centre of view. This quick bedside method picks up early loss of side (peripheral) vision that can occur in retinal dystrophies.Colour vision testing (e.g., Ishihara plates)
Special colour-dot charts are shown to the child to see if they can read numbers or shapes hidden in the pattern. Difficulty reading them suggests cone cell dysfunction, which fits with a cone-rod dystrophy-like pattern in this syndrome.Cover–uncover test for strabismus
The doctor covers and uncovers each eye while the child looks at a target. Eye movements during this test can reveal hidden misalignment (strabismus), which is common in children with poor or unequal vision.Feeding and speech assessment
Speech-language therapists and cleft teams observe feeding, sucking, swallowing and early sound production. These bedside assessments guide early interventions and help reduce complications from the cleft lip.
Laboratory and pathological tests
Basic blood tests (CBC and general biochemistry)
Although there is no specific blood marker for this syndrome, routine blood tests help rule out other systemic causes of retinopathy, such as metabolic or inflammatory diseases, and check overall health before surgery or anaesthesia.Genetic counselling session
A genetic counsellor gathers a three-generation family history and explains autosomal recessive inheritance. While this is not a “lab test” in the strict sense, it is a key diagnostic step that supports the genetic nature of the condition.Chromosomal microarray or exome sequencing
These advanced DNA tests look across the genome for copy-number changes or rare variants in genes known to affect facial and retinal development. In many cases the specific gene may still not be found, but the test helps rule out other known syndromes.Targeted gene testing in research settings
In some centres, researchers may test candidate genes linked to cleft lip or inherited retinal dystrophies. Even if results are negative, they help refine the scientific understanding of this extremely rare association.
Electrodiagnostic tests
Full-field electroretinography (ffERG)
In an ERG test, electrodes record tiny electrical signals from the retina when it is stimulated by flashes of light. In cone-rod dystrophy or similar retinopathies, ERG shows reduced or absent responses, confirming that photoreceptor function is impaired.Multifocal electroretinogram (mfERG)
Multifocal ERG measures responses from many small areas across the retina at once. It can show whether the macula (central retina) is more affected than the periphery, which is useful when visual acuity is reduced but the fundus still looks relatively normal.Visual evoked potentials (VEP)
VEP testing records brain responses to visual stimuli using electrodes on the scalp. It checks whether signals from the eyes are reaching the visual cortex correctly, helping distinguish retinal problems from nerve or brain-level issues.
Imaging and instrument-based eye tests
Dilated fundus examination with ophthalmoscopy
Eye drops are used to widen (dilate) the pupil, then the doctor uses an ophthalmoscope to see the retina, optic nerve and blood vessels in detail. This is essential to detect the pigment changes and retinopathy that define this syndrome.Colour fundus photography
Special cameras take detailed photographs of the retina through the dilated pupil. These images provide a permanent record of pigment changes and vessel patterns and are very helpful for comparing the retina over months and years.Optical coherence tomography (OCT)
OCT uses light waves to create cross-section images of the retina. In inherited retinal diseases it shows thinning or structural changes in the photoreceptor layer and macula, giving a precise picture of how much tissue has been lost.Fluorescein angiography
In this test, a fluorescent dye is injected into a vein, and rapid retinal photographs are taken as the dye passes through the eye’s blood vessels. The images show whether the retinal circulation is normal or damaged, and they help characterise the pattern of retinopathy.
Non-pharmacological (non-drug) treatments
These approaches do not use medicines. They aim to improve daily life, protect vision, and support development.
Multidisciplinary care team
A team with a pediatrician, cleft-lip surgeon, ophthalmologist (eye doctor), geneticist, speech therapist, and psychologist works together. They plan treatments, follow the child over years, and help the family understand every step.[4]Early cleft-lip feeding support
Babies with cleft lip may struggle to suck. Special bottles, feeding positions, and help from a lactation or feeding therapist make feeding safer and help the baby gain weight and avoid chest infections.[5]Cleft-lip surgery preparation and counseling
Before surgery, parents learn what will happen, how scars may look, and how to care for the wound. This reduces fear, improves cooperation, and helps them plan for hospital stay and recovery at home.[6]Speech and language therapy
Some children with cleft lip may have nasal speech or articulation problems. Speech therapy teaches correct tongue and lip movements and supports clear speech, helping school performance and social confidence.[7]Regular dilated eye examinations
An ophthalmologist with retina experience follows the child with regular dilated eye exams and imaging. This helps detect early retinal changes, cataracts, or glaucoma and guides timing of treatments or low-vision support.[8]Low-vision aids (optical and electronic)
If vision drops, devices like high-power glasses, magnifiers, telescopic lenses, large-print books, and electronic magnifiers can make reading and daily tasks easier. Training to use these tools is part of low-vision rehabilitation.[9]Orientation and mobility training
Orientation and mobility specialists teach safe walking, use of a cane if needed, and how to navigate streets, buses, and new places using remaining vision and other senses. This protects independence as vision worsens.[10]Educational accommodations at school
The child may need seating near the board, extra lighting, high-contrast materials, large print, digital devices with zoom, and extra exam time. School plans (IEP / special education plans) help match support to the child’s needs.[11]Psychological and family counseling
A visible facial difference and progressive vision loss can cause shame, anxiety, or low mood. Counseling and support groups help the child and family cope, build self-esteem, and prevent isolation.[12]Genetic counseling for the family
A genetic counselor explains the inheritance pattern, recurrence risk in future pregnancies, and options such as carrier testing or prenatal diagnosis where available. This helps informed family planning.[13]Sunlight and UV protection for eyes
Wearing UV-blocking sunglasses, hats, and using photochromic lenses may reduce glare and protect fragile retina tissue from extra light stress, similar to advice in other retinal dystrophies.[14]Home lighting and contrast optimization
Simple changes like bright, even lighting, high-contrast labels, colored tape on steps, and clutter-free floors make the home safer and easier to navigate with low vision.[15]Assistive technology training
Screen readers, screen magnifiers, audio books, and smartphone accessibility features can help with reading, online study, and communication as vision declines.[16]Occupational therapy for daily tasks
Occupational therapists teach techniques to cook, dress, and use household tools safely with reduced sight, supporting independence and reducing caregiver load.[17]Physical activity and balance training
Simple exercise programs and balance training lower risk of falls when peripheral vision and depth perception are poor. Activities are chosen to be safe and enjoyable for the child.[18]Scar care and facial physiotherapy
After cleft-lip surgery, gentle massage, silicone gels, and facial exercises (as advised by the surgeon) can improve scar appearance and lip movement.[19]Social work and disability support navigation
Social workers can help the family apply for disability benefits, school support, travel passes, and find community resources for people with facial differences or visual impairment.[20]Fall-prevention home adaptations
Handrails, non-slip flooring, clear walkways, and good lighting on stairs reduce injuries from trips and falls, which are more likely with reduced peripheral vision.[21]Avoiding smoking and second-hand smoke
Smoking is harmful to blood vessels and the retina. A smoke-free home supports overall eye health and general health, even though it cannot stop the genetic retinal disease itself.[22]Regular long-term follow-up
Lifelong follow-up with cleft-lip and eye specialists helps catch new problems early, adjust glasses or devices, and update the support plan as needs change.[23]
Drug treatments
There is no specific FDA-approved medicine that cures Ausems Wittebol-Post Hennekam syndrome. Medicines are used only to manage eye complications, infections, pain, and post-surgical care, following general cleft-lip and retinal-dystrophy practice. Dose and timing are always set by the treating doctor.
Below are key medicine groups, with examples whose official prescribing information is on FDA’s site accessdata.fda.gov. These are general examples, not personal treatment advice.
Lubricant eye drops (artificial tears)
Carboxymethylcellulose eye drops keep the cornea moist, relieve dryness, and improve comfort, especially after eye surgery or with reduced blinking.[24]Topical steroid eye drops
Prednisolone acetate eye drops are used short-term to reduce inflammation after eye surgery or in some inflammatory eye conditions. Doctors balance benefit with side-effects such as raised eye pressure or cataract risk.[25]Topical NSAID eye drops
Ketorolac and similar non-steroidal anti-inflammatory drops may be used around eye surgery to reduce pain and swelling, always for limited periods under supervision.[26]Antibiotic eye drops after surgery
Moxifloxacin ophthalmic solution (for example VIGAMOX or MOXEZA) is one option to prevent or treat bacterial conjunctivitis after eye procedures, helping protect the healing eye from infection.[27]Glaucoma / eye-pressure-lowering drops
If progressive retinal disease is accompanied by raised eye pressure, drops such as beta-blockers, carbonic anhydrase inhibitors, or prostaglandin analogues may protect the optic nerve by lowering pressure.[28]Systemic pain relief for surgeries
Paracetamol (acetaminophen) and, sometimes, short-term stronger pain medicines are used around cleft-lip and eye surgeries to keep the child comfortable and allow gentle feeding and breathing.[29]Antibiotics for wound or eye infections
If a wound or eye infection develops, doctors choose systemic or local antibiotics based on likely germs and local guidelines; moxifloxacin and similar drugs are examples with detailed FDA labeling.[30]Anti-VEGF injections for specific retinal complications
In some progressive retinal diseases with abnormal new blood vessels or swelling, anti-VEGF drugs like ranibizumab or aflibercept are injected into the eye to control leakage and protect central vision. Use in this syndrome would be off-label and specialist-guided only.[31]Short-term sedatives or anesthetic drugs for procedures
Anesthesia medicines are used for cleft-lip surgery and some retinal procedures to keep the child safe and still. Anesthesia plans are tailored to age, weight, heart and lung status, and surgical needs.[32]Treatments for unrelated general illnesses
Children with this syndrome still need usual medicines (for fevers, infections, etc.) according to standard pediatric guidelines. Doctors always check that any drug will not worsen eye or healing problems.[33]
Because only a handful of patients exist, there are not 20 separate evidence-based drugs uniquely proven for Ausems Wittebol-Post Hennekam syndrome. Management uses the same medicines as in cleft-lip care and inherited retinal disease, chosen case-by-case by specialists.[34]
Dietary molecular supplements
Supplements cannot cure this genetic condition, but some nutrients are studied in other retinal dystrophies and may support general eye health. Any supplement should be discussed with a doctor to avoid overdose or interactions.
Vitamin A (careful dosing)
Vitamin A is vital for the visual cycle in rods and cones. Low-dose vitamin A has shown small benefits in retinitis pigmentosa, but high doses can damage the liver or be dangerous in pregnancy, so dosing must be specialist-guided.[35]Lutein and zeaxanthin
These yellow plant pigments concentrate in the macula and help filter blue light and neutralize free radicals. Trials in retinal disease suggest they may slow some aspects of degeneration and support contrast sensitivity.[36]Omega-3 long-chain fatty acids (DHA/EPA)
Omega-3s are important for retinal cell membranes. Studies in retinal disease show possible neuroprotective and anti-inflammatory effects; doses, forms, and long-term safety should be planned with a clinician.[37]Antioxidant vitamins C and E
These antioxidants reduce oxidative stress in many tissues. In major eye trials (like AREDS/AREDS2), combinations with other nutrients helped in age-related macular degeneration, though data for this syndrome are lacking.[38]Zinc and copper
Zinc is involved in retinal enzyme systems but can affect copper metabolism, so balanced formulations are used. Benefits have been shown mainly in macular degeneration, not specifically in cleft-lip-retinopathy syndrome.[39]B-complex vitamins
B-vitamins support nerve health and energy metabolism. Good overall nutrition with sufficient B-vitamins may help general nervous-system resilience, though direct retinal benefits are still under study.[40]Vitamin D
Vitamin D supports immune balance and bone health and may have indirect neuroprotective roles. Deficiency is common and usually corrected with standard doses, guided by blood tests.[41]Carotenoid-rich plant extracts (e.g., goji berry)
Goji berries contain high levels of zeaxanthin and have shown early signals for improving macular pigment in age-related degeneration, but evidence in inherited dystrophies is still limited.[42]Coenzyme Q10 (CoQ10)
CoQ10 supports mitochondrial energy production and acts as an antioxidant. Some eye-health reviews list it as a potential helper for retinal cells, but evidence is mostly indirect or from small studies.[43]Alpha-lipoic acid and N-acetylcysteine (NAC)
These antioxidants help recycle other antioxidants and may protect against oxidative damage in neural tissues; evidence in retinal diseases is still emerging and should be considered experimental.[44]
Immune-booster / regenerative / stem-cell-related drugs
There are no standard immune-booster or stem-cell drugs specifically approved for this syndrome. A few concepts are relevant:
Routine childhood vaccinations
Standard vaccines (like measles, polio, and others) do not treat the syndrome but protect against infections that could worsen overall health or complicate surgery and eye care.[45]Seasonal influenza and pneumococcal vaccination
Protecting the lungs from severe infections helps children recover better from anesthesia and surgeries and avoids hospitalizations that could delay needed eye or cleft procedures.[46]Gene-therapy (Luxturna as a model)
Voretigene neparvovec (LUXTURNA) is gene therapy for a different inherited retinal dystrophy (biallelic RPE65 mutations). It shows that gene replacement can improve vision in some inherited retinal diseases, but it is not approved for this syndrome at present.[47]Experimental retinal cell therapies
Research is exploring stem-cell-derived retinal pigment epithelium or photoreceptor transplants to slow or reverse retinal degeneration. These approaches are still in clinical trials and not routine care.[48]Neurotrophic or growth-factor-based treatments
Lab and early clinical research looks at agents that increase neurotrophic factors to support retinal cells. So far, there are no approved drugs of this type for cleft-lip-retinopathy syndrome.[49]Systemic “immune boosters” and unregulated stem-cell clinics – caution
Commercial “immune boosters” or unapproved stem-cell injections advertised online can be risky and unproven, especially for eye diseases. International eye and neurology groups strongly warn against such treatments outside regulated trials.[50]
Surgeries
Primary cleft-lip repair
Surgery is usually done in the first months of life to close the lip, improve feeding, and create a more typical facial shape. It greatly improves appearance and function but does not affect the retinal disease.[51]Revision and scar-refinement surgery
Later, some children have small revision surgeries to improve lip symmetry, nose shape, or scar appearance. This helps speech, lip closure, and self-image during school years.[52]Cataract surgery
If lens clouding develops from age or steroid use, cataract surgery removes the cloudy lens and replaces it with a clear artificial lens, improving remaining vision when the retina still has function.[53]Retinal laser or cryotherapy for specific complications
In some inherited retinal diseases, laser or freezing treatment is used to seal retinal tears or prevent detachment. Whether this is needed depends on individual retinal findings in this syndrome.[54]Vitrectomy for retinal detachment or bleeding
If the retina detaches or there is persistent bleeding, vitrectomy (removing the gel in the eye and repairing the retina) may be considered by a vitreoretinal surgeon to preserve whatever sight remains.[55]
Prevention
Because the exact genetic cause is still unclear, we cannot fully prevent the syndrome itself. However, we can reduce complications and support better outcomes:
Genetic counseling before future pregnancies in affected families.[56]
Avoiding closely related parents (consanguinity) where culturally possible, to lower autosomal-recessive risk.[57]
Early newborn exams to detect cleft lip and eye problems quickly.[58]
Prompt cleft-lip repair and feeding support to prevent poor growth and chest infections.[59]
Regular eye follow-up to catch retinal changes, cataract, or glaucoma early.[60]
Using protective eyewear during sports to prevent eye injuries.[61]
Sun and UV protection for life to reduce extra retina stress.[62]
Healthy diet and no smoking to support vascular and retinal health.[63]
Vaccinations to prevent serious infections that can delay surgeries or damage general health.[64]
Good school and psychological support to prevent secondary problems like depression or social withdrawal.[65]
When to see doctors
You should see a doctor urgently or go to emergency care if a person with this syndrome has:
A newborn with a visible cleft lip or feeding difficulties (needs early cleft-team review).
Sudden loss of vision, sudden dark curtain, or flashes of light.
Red, painful eye with blurred vision, discharge, or after an injury.
Severe headaches, vomiting, or changes in consciousness after eye surgery or trauma.
Regular, non-urgent visits are also important:
Routine follow-up with the ophthalmologist (eye doctor) to monitor retina, intraocular pressure, and any cataract.
Routine visits with the cleft-lip/craniofacial team to review speech, hearing, dentistry, and facial growth.
Check-ups with a pediatrician or family doctor for vaccines, growth, and general health.[66]
Because you are reading this online and I don’t know your personal medical details, this cannot replace a real medical visit. If anyone has worrying symptoms, they should see a doctor in person as soon as possible.
What to eat and what to avoid
Food cannot fix the gene change, but it can support eye and body health.
Eat: Dark-green leafy vegetables (spinach, kale) rich in lutein and zeaxanthin.
Eat: Oily fish (salmon, sardines) 1–2 times per week for omega-3 fatty acids.
Eat: Bright orange/yellow fruits and vegetables (carrots, pumpkin, mango) for carotenoids.
Eat: Nuts and seeds (walnuts, almonds, sunflower seeds) for healthy fats and vitamin E.
Eat: Whole grains, beans, and lentils for steady energy and B-vitamins.
Avoid or limit: Sugary drinks and highly processed snacks, which add calories but little nutrition.
Avoid: Smoking and second-hand smoke; they damage blood vessels and eyes.
Limit: Very high-dose vitamin A or “mega-vitamin” supplements unless prescribed.
Limit: Deep-fried foods and trans fats, which may harm vascular health.
Keep: Good hydration with water; limit sugary juices.[67]
Frequently asked questions
Is there a cure for Ausems Wittebol-Post Hennekam syndrome?
No. At present there is no cure. Treatment focuses on cleft-lip repair, protecting vision, and providing low-vision and psychological support.[68]Will everyone with this syndrome go blind?
Reported patients have progressive retinal disease, but the speed and final level of vision vary. Early low-vision rehab can help the person function well even with reduced sight.[69]Are intelligence and learning always normal?
This syndrome mainly affects the lip and retina. Most descriptions do not report a specific pattern of intellectual disability, but vision problems can make learning harder without proper school support.[70]Is it the same as “Hennekam lymphangiectasia syndrome”?
No. The names sound similar but refer to different conditions. Ausems Wittebol-Post Hennekam syndrome links cleft lip with retinal disease; Hennekam syndrome mainly affects lymph vessels and causes swelling.[71]Can surgery fix the retina?
Surgery can treat complications like cataract or retinal detachment in some cases, but it cannot reverse the underlying genetic degeneration of photoreceptor cells.[72]Can glasses alone solve the problem?
Glasses correct focusing errors but cannot stop retinal cells from slowly failing. However, good refractive correction plus low-vision aids can maximize remaining vision.[73]Is gene therapy available for this syndrome now?
No gene therapy is currently approved. The success of Luxturna for a different retinal gene disease shows the concept works, so future gene therapies may appear if the responsible gene is clearly identified.[74]Can diet or supplements stop the disease?
No food or supplement has been proven to stop this syndrome. Some nutrients may support general retinal health, but they are only an add-on, never a replacement for medical care.[75]Can children with this syndrome attend regular school?
Yes, many can, especially with early cleft-lip repair and good vision support (large print, magnifiers, assistive tech). Educational plans should be individualized.[76]Is pregnancy safe for someone with this condition?
Pregnancy planning should involve an obstetrician and ophthalmologist. The main issues are genetic counseling for recurrence risk and monitoring any existing eye problems, not the cleft lip itself.[77]Can brothers or sisters also have it?
Because it is probably autosomal recessive, each full brother or sister has a 25% chance of also being affected if both parents are carriers. Genetic counseling can explain this in detail.[78]Should parents be tested?
Where genetic testing is available and the causative gene is known, testing parents can confirm carrier status and help future family planning. In many families, the gene is still unknown, so testing may not yet be helpful.[79]Does the condition get worse forever?
Retinal changes are usually progressive, but the pace varies and may stabilize at some level. Regular monitoring lets doctors adapt support as vision changes.[80]Can someone with this syndrome drive?
This depends completely on actual vision, local driving laws, and safety. Many people with progressive retinal dystrophy eventually do not meet legal driving standards and should focus on other mobility options.[81]What is the long-term outlook (prognosis)?
Prognosis mainly depends on severity of the cleft lip (usually well-managed) and how quickly the retinopathy progresses. With early surgery, low-vision care, and strong psychosocial support, many people can live full, meaningful lives despite visual limitations.[82]
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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 29, 2025.
