Goldblatt-Viljoen syndrome is a very rare birth condition where a baby is born with three main problems together: the bones on the thumb side of the forearm are under-developed (radial ray hypoplasia), the back of the nose is blocked (choanal atresia), and one or both eyes turn inwards (convergent strabismus or esotropia).Orpha+1
Goldblatt-Viljoen syndrome (also called radial ray hypoplasia-choanal atresia syndrome) is an extremely rare genetic condition. It has been reported only in a very small number of families worldwide. In this syndrome, parts of the forearm and thumb on the “radial side” (thumb side) are under-developed, the back of the nose may be blocked (choanal atresia or stenosis), and the eyes may turn inward (convergent strabismus or esotropia).Orpha+1
The problem is present from birth and is usually inherited in an autosomal dominant pattern, which means one changed copy of the gene from an affected parent can be enough to cause the condition. Babies may have trouble breathing through the nose, a flat or depressed nasal bridge, thumbs that are short, small, or placed more toward the wrist, and eye misalignment.MalaCards+1
Doctors first described this syndrome in a family (a father and his two daughters). Because it runs in families and affects several generations, doctors think it is passed on in an autosomal dominant way, which means a change in just one copy of the gene is enough to cause the condition.Orpha+2MeSH Browser+2
The condition is extremely rare, with an estimated frequency of less than 1 in 1,000,000 people worldwide, and only a few families are reported in the medical literature. Most of what we know comes from these few case reports and from what doctors already know about choanal atresia, radial ray defects, and convergent strabismus as separate problems.Orpha+2MalaCards+2
Because this disease is so rare, there is still a lot we do not know. Many details about the exact gene change, the full range of symptoms, and long-term outcomes are still being studied. Treatment usually focuses on fixing or improving each of the three main problems (nose blockage, limb differences, and eye misalignment).Orpha+2MalaCards+2
Other names for Goldblatt-Viljoen syndrome
Goldblatt-Viljoen syndrome has several other names. Different medical databases and papers may use different terms, but they all describe the same core pattern of problems:
Radial ray hypoplasia–choanal atresia syndrome – this name describes the two main findings: under-developed radial ray (thumb-side bones) and choanal atresia (back of the nose blocked).Orpha+1
Radial ray hypoplasia with choanal atresia – another way to say the same thing, often used in rare-disease registries.MalaCards+1
Choanal atresia with radial ray hypoplasia – the words are reversed but the meaning is unchanged.MalaCards+1
Autosomal dominant radial ray hypoplasia syndrome – this name focuses on the limb bones and the way it is inherited.MeSH Browser+1
Goldblatt-Viljoen radial ray hypoplasia – this form includes the names of the doctors who first described the syndrome.MeSH Browser+1
All of these names refer to the same rare malformation syndrome with radial ray hypoplasia, choanal atresia, and convergent strabismus.Orpha+2MalaCards+2
Types and patterns of Goldblatt-Viljoen syndrome
There is no official “type 1 / type 2” classification for Goldblatt-Viljoen syndrome because only a few people have been reported. Instead, doctors describe patterns based on how severe each feature is.Orpha+1
One way to think about “types” is by how strong the limb changes are. Some people may have a completely missing radius and thumb on one or both sides, while others may have only a small or unusually shaped thumb, or a radius that is short but still present. This pattern of different levels of severity in the radial ray is clearly described in the case reports and rare-disease summaries.Orpha+2Hand Surgery Resource+2
Another way is by how bad the choanal atresia is. It can be on one side (unilateral) or on both sides (bilateral). When both sides are blocked, the newborn may struggle to breathe right after birth and may need urgent help. When only one side is blocked, symptoms can be milder and may appear later in childhood.NCBI+2Wikipedia+2
A third pattern is how noticeable the eye problem is. Some children have obvious convergent strabismus, where one eye clearly turns inward, while others may have a smaller misalignment that is only seen with careful eye tests. If strabismus is not treated, lazy eye (amblyopia) and vision problems can develop.Orpha+2ScienceDirect+2
So, instead of strict types, doctors look at each child’s mix of limb, nose, and eye changes, and then plan treatment based on the specific severity and needs of that person.Orpha+2MalaCards+2
Causes of Goldblatt-Viljoen syndrome
Remember: for this syndrome, the main cause is genetic, and many of the other “causes” below are better understood as risk factors or mechanisms that may play a role in similar birth defects (limb defects, choanal atresia, eye misalignment). For Goldblatt-Viljoen itself, the exact gene is still unknown.
Single-gene change affecting limb and face development
Goldblatt-Viljoen syndrome behaves like a single-gene disorder that affects the early development of the radial ray, nasal passages, and eye muscles. The pattern of a father and two daughters affected fits with a single autosomal dominant gene change.Orpha+2Wiley Online Library+2Autosomal dominant inheritance from an affected parent
In autosomal dominant inheritance, a parent with the condition can pass on the changed gene to each child with a 50% chance. Only one changed copy is needed to cause the disease. This pattern matches how Goldblatt-Viljoen syndrome appears in the reported family.Orpha+2Cleveland Clinic+2New (de novo) mutation in egg or sperm
In some children, the gene change may appear for the first time in the egg or sperm, even when both parents look healthy. This kind of new mutation is common in many rare genetic syndromes, especially when only one small family is described.Genomics Education Programme+1Abnormal formation of the radial ray
Radial ray defects occur when the thumb-side structures (thumb, first metacarpal, radial carpal bones, and radius) do not form completely or are missing. This is thought to come from faulty genetic signals that guide limb buds in early pregnancy.Radiopaedia+2ScienceDirect+2Failed opening of the choanae (choanal atresia)
In choanal atresia, the back of the nose stays closed by bone or tissue because the normal opening process fails during fetal development. This developmental error is part of the core cause of breathing problems in this syndrome.NCBI+2Wikipedia+2Abnormal neural crest cell migration in the face
Neural crest cells help form parts of the nose, palate, and facial bones. Problems in their movement or growth are believed to contribute to choanal atresia and other facial anomalies in several syndromes, and may also be involved in this condition.Wikidoc+2NCBI+2Imbalance in eye muscle development leading to convergent strabismus
Convergent strabismus (esotropia) happens when the eye muscles and their nerve control do not work together properly, causing one eye to turn inwards. A genetic problem that affects muscle or nerve development could explain the stable, inherited eye misalignment seen in this syndrome.ScienceDirect+2EyeWiki+2General genetic susceptibility to limb reduction defects
Studies show that many limb reduction defects, including radial ray problems, are strongly linked to genetic causes. Goldblatt-Viljoen syndrome is one example of a syndromic radial ray defect where a genetic cause is very likely.Indian Academy of Medical Genetics+2Strathprints+2Environmental teratogens (in general limb and nasal anomalies)
Research on congenital malformations shows that some medicines, chemicals, and other environmental exposures in early pregnancy can cause limb and facial defects. These teratogens are known causes for some limb and nasal anomalies, although they are not proven causes of Goldblatt-Viljoen syndrome specifically.SciSpace+2Strathprints+2Disturbed blood supply to limb buds during early pregnancy
Some limb reduction defects may arise because the blood flow to developing limb buds is temporarily reduced or blocked in early pregnancy, leading to under-development of the radial structures. This mechanism has been discussed in limb reduction defect research.ResearchGate+2EMRO+2Maternal diabetes as a general risk for congenital anomalies
Maternal pregestational diabetes is linked with a higher risk of several congenital malformations, including limb deficiencies, through complex changes in developmental control genes. This is a general mechanism and may contribute in some cases but is not proven for this exact syndrome.Wiley Online Library+2PMC+2Maternal smoking and low birth weight (general limb reduction risk)
Limb reduction defects have been associated with maternal smoking and low birth weight in population studies. These factors can increase the risk of isolated limb defects and may also influence syndromic limb anomalies.PMC+1Drug exposures linked with choanal atresia (general data)
Some studies suggest that certain drugs, including the antithyroid medicine methimazole and other agents, may increase the risk of choanal atresia when taken in early pregnancy. These links come from choanal-atresia research and may not apply directly to Goldblatt-Viljoen but show possible environmental influences.Wikipedia+2Cleveland Clinic+2Herbicide exposure (atrazine) and choanal atresia (general data)
An epidemiologic study found a strong association between high atrazine herbicide use in some regions and increased risk of choanal atresia or stenosis, suggesting environmental toxins can influence choanal development, though again this is not specific to Goldblatt-Viljoen syndrome.Wikipedia+1Combination of genetic and environmental factors (multifactorial)
For many birth defects, both genes and environmental exposures act together. Choanal atresia, radial defects, and other malformations are often described as multifactorial traits, where a genetic predisposition plus environmental triggers together decide whether the defect occurs.PMC+2PMC+2Shared developmental pathways with other radial ray syndromes
Radial ray defects are seen in several genetic syndromes (for example Holt-Oram, TAR syndrome, and VACTERL association), suggesting that shared limb-development pathways can be affected by different gene changes. Goldblatt-Viljoen syndrome likely involves one of these limb-development pathways.Indian Academy of Medical Genetics+1General genetic changes in limb patterning genes
Reviews of congenital limb deficiencies show that changes in patterning genes (such as homeobox genes and growth factor genes) can cause various limb malformations. Goldblatt-Viljoen syndrome is probably part of this broad group of limb patterning disorders.EMRO+2Strathprints+2Vascular or mechanical disruption in the uterus (general limb defects)
Pressure, uterine constraints, or vascular events in the womb may contribute to some limb anomalies by limiting space or blood flow to a developing limb. These mechanisms are described for limb deformities in general, not specifically for Goldblatt-Viljoen syndrome.The Pediatric Orthopedic Center+2MD Searchlight+2Family clustering and founder effects in rare syndromes
In some rare genetic conditions, a single mutation appears in an ancestor and is passed down through a family line, which is called a founder effect. Reports of rare genetic diseases in specific families in South Africa illustrate how such founder mutations can cluster in a community.journals.co.za+2FARR SA+2Unknown or still-unidentified factors
For many congenital malformations, the exact cause remains unknown, even after genetic and environmental studies. Experts note that the largest group of congenital anomalies still has no clearly identified cause, and Goldblatt-Viljoen syndrome may fall into this group until its specific gene is discovered.AAP Publications+2PMC+2
Common symptoms and signs
Trouble breathing through the nose from birth
Because the back of the nose (choanae) is blocked by bone or tissue, babies may not be able to breathe well through their nose, especially when both sides are blocked. This causes breathing distress in newborns, because newborns prefer to breathe through their nose.Cleveland Clinic+2NCBI+2Noisy or difficult breathing, especially during feeding
Babies with choanal atresia may have noisy breathing, snorting, or obvious effort when they try to breathe, and symptoms can get worse when they feed because they are trying to suck and breathe at the same time.Cleveland Clinic+2Children’s Hospital of Philadelphia+2Blue color during feeding that improves when crying (cyclical cyanosis)
In severe bilateral choanal atresia, a baby may turn bluish around the lips and face when feeding because the nasal airway is blocked. The color can improve when the baby cries, because the mouth opens and air can enter through the mouth. This “cyclical cyanosis” is a classic warning sign.Wikipedia+2ResearchGate+2Persistent blocked nose or one-sided nasal discharge
If only one side of the nose is blocked, the child may have a long-term blocked nostril, chronic nasal discharge on that side, or repeated sinus infections, sometimes not noticed until later childhood.Wikipedia+2Children’s Hospital of Philadelphia+2Forearm that bends toward the thumb side (radial deviation)
Radial longitudinal deficiency makes the wrist bend sharply toward the thumb side, giving the hand a “radial club” appearance. The forearm may look short, and the hand may sit at an angle compared to the elbow.Boston Children’s Hospital+2orthobullets.com+2Missing or very small thumb
Many children with radial ray hypoplasia have a thumb that is missing, very small, or has an unusual shape. The thumb may also have extra joints or be stiff, which affects how the child grasps objects.Hand Surgery Resource+2Gamuts+2Difficulty gripping, pinching, or holding objects
Because the thumb and radius help in pinch and grip, weakness or absence in these structures can cause trouble holding toys, feeding tools, or writing tools. Children may learn to use the other hand more or find different ways to hold objects.Boston Children’s Hospital+2orthobullets.com+2Short forearm or difference between the two arms
If the radius is missing or short, the affected forearm is shorter than normal, and the wrists may not line up when the child holds both arms out. Sometimes only one side is affected, so the arms look noticeably different.Radiopaedia+2ScienceDirect+2Eyes that turn inward (convergent strabismus or esotropia)
Convergent strabismus means that one or both eyes turn toward the nose. This inward eye turn may be constant or may come and go. It is often noticed when the child looks straight ahead or when a light reflection is not in the same place on both eyes.ScienceDirect+2Batıgöz Sağlık Grubu+2Poor depth perception and clumsiness
Eye misalignment disturbs the brain’s ability to merge the two images from both eyes. This can reduce depth perception (3-D vision), leading to bumping into objects, misjudging steps, or clumsy reaching.Dr Agarwals Eye Hospital+2Wikipedia+2Eye strain, headaches, or squinting
Some children try to compensate for strabismus by tilting their head or squinting one eye. This constant effort may cause headaches, eye strain, or tired eyes, especially when reading or looking at near objects.EyeWiki+1Frequent sinus or upper airway infections
Blocked or narrow nasal passages can interfere with normal airflow and drainage, which may increase the risk of recurrent sinus infections or persistent nasal symptoms.Children’s Hospital of Philadelphia+2Apollo Hospitals+2Feeding difficulties and poor weight gain in infancy
Babies who struggle to breathe through the nose may also struggle to feed well, because they must coordinate sucking, swallowing, and breathing. This can lead to slow weight gain, frequent pauses during feeding, or early tiredness.Cleveland Clinic+2Cleveland Clinic+2Nasal speech or abnormal sounding voice
Long-term nasal blockage can make the voice sound stuffy or nasal. Children may sound as if they always have a cold, and speech therapists or doctors may notice this during assessment.NCBI+1Emotional and social effects from visible differences
Visible differences in the hands, arms, and eyes can affect a child’s self-confidence and how others react. Children may feel shy or worried about their appearance, so emotional support and counseling can be an important part of care.PMC+2AAP Publications+2
Diagnostic tests
Physical examination tests
General newborn and child physical examination
The doctor first does a full physical exam. They check body weight, length, head size, heart and lung sounds, and look for any other birth defects. In Goldblatt-Viljoen syndrome, this exam helps confirm that the limb, nose, and eye findings occur together and also checks for any additional anomalies.Orpha+2PMC+2Breathing pattern and nose blockage observation
The clinician watches how the baby breathes at rest and during feeding. Signs like chest pulling, flaring of the nostrils, noisy breathing, or color changes suggest serious nasal blockage, which fits with choanal atresia.Cleveland Clinic+2NCBI+2Inspection of forearms, wrists, and thumbs
The doctor looks carefully at both arms to see if the radius bone seems short or missing, if the wrist bends toward the thumb side, and how the thumb looks. They compare both sides to see if the problem is on one arm or both. This visual exam is the key first step in diagnosing radial ray hypoplasia.Radiopaedia+2Boston Children’s Hospital+2Eye alignment and corneal light reflex test
To check for convergent strabismus, the doctor shines a light at the child’s eyes and looks at where the light reflection appears on each eye. If the reflections are not in the same place, or if one eye turns inward, it suggests esotropia and may require a detailed eye exam.ScienceDirect+2EyeWiki+2
Manual function tests
Thumb movement and pinch / grip strength test
The examiner gently asks the child (or observes a baby) to move the thumb, pinch small objects, and grip the examiner’s finger or a toy. Weak or absent thumb movement and poor grip strength are expected when the radial ray is under-developed.Boston Children’s Hospital+2Hand Surgery Resource+2Wrist range of motion assessment
The doctor slowly moves the wrist up, down, and side to side to see how far it can move and which positions are comfortable. In radial ray deficiency, the wrist often bends strongly towards the thumb side and may not straighten fully.orthobullets.com+1Hand function and grasping test
By giving the child age-appropriate objects (rattles, blocks, crayons), the clinician can see how the child grasps, holds, and releases items. This simple test shows how much the limb difference affects daily function and helps plan therapy or surgery.Boston Children’s Hospital+2The Pediatric Orthopedic Center+2Developmental milestone and motor skills assessment
The clinician checks when the child achieved milestones such as reaching, grasping, crawling, and walking. Delays are not always present, but they may appear if limb differences or breathing problems make early movement more difficult.PMC+2The Pediatric Orthopedic Center+2
Laboratory and pathological tests
Basic blood tests (complete blood count and chemistry)
Routine blood tests check overall health, look for anemia, infection, or metabolic problems, and help prepare the child for any planned surgeries. These tests do not diagnose the syndrome directly but are part of safe care for any child with a complex malformation.PMC+1Genetic counseling and three-generation family pedigree
A genetics professional takes a detailed family history, asking about relatives with limb differences, facial anomalies, or eye problems. Drawing a three-generation family tree helps show an autosomal dominant pattern, where the condition may appear in each generation.Genomics Education Programme+2Cleveland Clinic+2Chromosomal karyotype or microarray
These tests look at the child’s chromosomes to find large deletions, duplications, or rearrangements. While Goldblatt-Viljoen syndrome is not yet linked to a specific chromosomal change, such testing helps rule out other syndromes that can cause similar limb and facial defects.PMC+2Wiley Online Library+2Targeted gene panel or single-gene testing
In some centers, doctors may order gene panels that study many genes that control limb and craniofacial development. Even if the exact gene for Goldblatt-Viljoen is not yet known, these tests can sometimes find a related known syndrome or give clues for future research.Indian Academy of Medical Genetics+2Strathprints+2Screening tests for associated bone marrow or limb syndromes (for example Fanconi anemia work-up)
Because some radial ray anomalies are linked to bone marrow failure syndromes like Fanconi anemia, doctors may screen for these with blood counts and specific chromosome breakage tests when the clinical picture is unclear. This helps separate Goldblatt-Viljoen from other, more common syndromes.Indian Academy of Medical Genetics+2PMC+2Pre-operative coagulation profile and blood type
Before surgery on the nose, eyes, or limbs, blood tests to check clotting (INR, aPTT) and blood type help reduce risks of bleeding and allow safe transfusion if needed. This is standard pre-surgical care, not specific to this syndrome but important in management.PMC+1
Electrodiagnostic tests
Nerve conduction studies of upper limb nerves
Nerve conduction studies measure how fast signals travel along nerves in the arm, such as the median, radial, and ulnar nerves. In children with unusual limb anatomy, these tests can show whether the nerves are working well and help plan surgeries or therapy.NCBI+2MSD Manuals+2Electromyography (EMG) of upper limb muscles
EMG uses tiny needles and recording equipment to see how muscles respond to nerve signals. It can show if muscle weakness is due to missing or abnormal muscle, nerve damage, or both. This information can be useful when deciding which muscles and tendons can be used in reconstructive hand surgery.MedlinePlus+2Cleveland Clinic+2Visual evoked potential (VEP) testing (if serious vision concerns)
VEP tests measure the brain’s electrical response to visual patterns. Electrodes on the scalp record signals from the visual cortex when the child looks at a screen. This test can help check how well the visual pathway is working in children with significant strabismus or suspected reduced vision.Cleveland Clinic+2NCBI+2
Imaging tests
X-ray radiographs of forearms, wrists, and hands
X-rays are the main imaging test for radial ray hypoplasia. They show whether the radius bone is completely missing, partly formed, or normal, and how the thumb and wrist bones look. This helps classify the limb abnormality and plan orthopedic or plastic surgery.Radiopaedia+2Hand Surgery Resource+2CT scan of the nasal cavity and choanae
CT scanning of the nose and sinuses gives a detailed picture of the bone and tissue at the back of the nose. It confirms choanal atresia, shows whether the blockage is bony, membranous, or mixed, and guides surgeons on how to open the airway safely.NCBI+2Wikipedia+2Prenatal or postnatal ultrasound to look at limbs and face
Prenatal ultrasound can sometimes detect absent or short radius bones and abnormal hand positions in the womb. After birth, ultrasound can also be used to examine soft tissues and look for other internal organ anomalies that may sometimes accompany complex limb defects.Obstetrics & Gynecology+2Indian Academy of Medical Genetics+2
Non-Pharmacological Treatments (Therapies and Others)
Below are 20 non-drug approaches that are commonly used. These are general measures for choanal atresia, radial ray anomalies, and esotropia, not specific trial-proven therapies for Goldblatt-Viljoen syndrome itself.
1. Airway positioning and mouth-breathing training
Babies with choanal atresia can struggle because they prefer to breathe through the nose. Safe positioning (slightly side or tummy tilt in hospital with monitoring), gentle chin support, and teaching parents how to help the baby breathe through the mouth can be life-saving before and after surgery. The purpose is to keep oxygen levels safe and avoid distress. It works by using gravity and jaw position to keep the mouth slightly open until the nose is surgically opened.NCBI+1
2. Humidified air and saline nasal drops
Before and after choanal surgery, humidified air and salt-water (saline) drops help keep the nose moist and reduce crusting. The purpose is to make breathing easier and to protect the delicate nasal lining after surgery. The mechanism is simple: saline loosens thick mucus and humidified air prevents dryness, helping air flow more freely around partial blocks or new surgical openings.Cleveland Clinic+1
3. Gentle nasal suction by trained staff
In a hospital setting, nurses or doctors may use gentle suction to clear mucus from the front of the nose. The purpose is to stop mucus plugs from worsening obstruction. It works by mechanically removing secretions, but it must be done carefully to avoid trauma to the nasal lining, especially after endoscopic choanal repair.Bangladesh Journals Online+1
4. Early endoscopic assessment of the nose
Even before surgery, ENT specialists may perform endoscopic checks to understand the shape and thickness of the blockage. The purpose is to plan the safest and most effective surgery. The mechanism is diagnostic: thin telescopes show the exact location of the atretic plate and any associated nasal anomalies.Bangladesh Journals Online+2CSurgeries+2
5. Physiotherapy for limb alignment and strength
Physiotherapists work with infants to gently stretch tight tissues and encourage use of the affected arm and hand. The purpose is to prevent stiffness and encourage symmetrical movement. It works by using repeated, gentle movement patterns that help muscles, joints, and nerves adapt and function better even when bones are shortened or missing.openorthopaedicsjournal.com+2Musculoskeletal Key+2
6. Splinting and stretching for radial ray deficiency
Custom splints can position the wrist and hand in a more functional line, often combined with stretching. The purpose is to improve hand function and prepare tissues for later surgery, such as centralization of the hand over the forearm. The mechanism is biomechanical: splints hold bones and joints in a corrected position for many hours per day, slowly lengthening shortened soft tissues.orthobullets.com+2Boston Children’s Hospital+2
7. Occupational therapy for hand function
Occupational therapists teach the child practical ways to grasp, hold, and manipulate objects using whatever thumb or finger function is present. The purpose is to support independence in play and daily activities. It works through guided practice, adaptive grips, and sometimes assistive devices, helping the brain learn new movement strategies.Musculoskeletal Key+1
8. Vision therapy and patching (when appropriate)
If one eye is stronger, eye specialists may advise patching the stronger eye for short periods so the weaker eye is forced to work. The purpose is to prevent amblyopia (“lazy eye”). The mechanism relies on neuroplasticity: when the brain is encouraged to use the weaker eye, visual pathways can strengthen before surgery for esotropia.Cleveland Clinic+2Cleveland Clinic+2
9. Early developmental stimulation
Children with rare syndromes sometimes have delays because of frequent hospital stays. Simple daily interaction, talking, playing, and reading are powerful non-drug therapies. The purpose is to support cognitive, motor, and social development. The mechanism is enrichment: stimulating environments help brain connections grow and compensate for early challenges.MSD Manuals
10. Speech and feeding therapy
Nasal blockage and surgeries may affect feeding and speech. Speech-language therapists help with safe swallowing, bottle or breast feeding techniques, and later speech clarity. The purpose is to protect nutrition and communication. It works by using tailored exercises that coordinate breathing, swallowing, and articulation.Cleveland Clinic+1
11. Psychosocial support for family
Parents of a baby with a very rare syndrome often feel shocked or alone. Psychological counselling and connection to rare-disease support groups can reduce anxiety and depression. The purpose is emotional resilience. It works by providing information, coping strategies, and social connection, which reduces stress hormones and improves problem-solving in the family.Genetic Diseases Info Center+1
12. Genetic counselling
Because the condition is likely autosomal dominant, genetic counselling helps parents understand recurrence risk and options for future pregnancies. The purpose is informed decision-making. The mechanism is educational and supportive: counsellors explain inheritance patterns and available genetic testing or prenatal imaging.MalaCards+1
13. School-based accommodations
As the child grows, they may need simple classroom supports: extra time for writing, adaptive tools for drawing or keyboard use, and seating where vision is best. The purpose is equal learning opportunity. The mechanism is environmental adjustment, so physical differences do not limit academic performance.MSD Manuals+1
14. Ergonomic aids and assistive devices
Adaptive utensils, grips, and writing tools are low-risk but highly useful. Their purpose is to make daily tasks like eating and writing easier and less tiring. They work by changing the shape and size of tools so that the available fingers can control them better despite short or absent thumbs.Musculoskeletal Key+1
15. Regular eye checks and glasses
Even after strabismus surgery, many children need glasses. The purpose is clear vision and good depth perception. The mechanism is optical: correcting refractive errors (like farsightedness) reduces strain on eye muscles and supports stable alignment.Cleveland Clinic+2Cleveland Clinic+2
16. Respiratory physiotherapy when needed
If repeated chest infections occur because of chronic nasal obstruction or mouth breathing, chest physiotherapy may be used. The purpose is to clear secretions from the lungs and prevent pneumonia. It works through controlled breathing exercises and gentle chest percussion to mobilize mucus.Cleveland Clinic+1
17. Nutritional counselling
Nutritionists help ensure the child gets enough calories, protein, vitamins, and minerals despite feeding difficulties. The purpose is to support growth, immune function, and bone health for future surgeries. The mechanism is simple: a balanced diet provides building blocks for tissue repair and development.MSD Manuals+1
18. Post-operative rehabilitation programs
After limb or nasal surgery, structured rehab programs with physiotherapy and occupational therapy are essential. The purpose is to maintain surgical corrections and restore function. It works by gradually increasing movement and strength while protecting healing tissues.ScienceDirect+2openorthopaedicsjournal.com+2
19. Regular dental and jaw monitoring
Craniofacial differences and mouth-breathing can affect teeth and jaw growth. Regular dental and orthodontic reviews help prevent crowding and bite problems. The purpose is to maintain oral health and chewing function. The mechanism is early detection and timely orthodontic interventions if needed.MSD Manuals+1
20. Long-term follow-up in a multidisciplinary clinic
Because Goldblatt-Viljoen syndrome can affect breathing, limbs, and eyes, long-term follow-up with a team that knows the child well is itself a treatment. The purpose is early detection of new problems (such as worsening wrist angle or recurrent nasal stenosis). The mechanism is proactive care: regular checks reduce complications and maximize quality of life.Cureus+3Genetic Diseases Info Center+3Orpha+3
Drug Treatments
Very important: There are no medicines approved specifically for “Goldblatt-Viljoen syndrome.” The drugs below are general medicines that may be used around surgery, for infections, or for symptom relief, based on FDA-approved labels on accessdata.fda.gov and standard pediatric practice. Actual choice, dose, and timing must always be decided by a specialist doctor.FDA Access Data+4Genetic Diseases Info Center+4NCBI+4
To stay safe and within space limits, I will not give exact milligram doses. I will explain how they are usually used and why.
Examples of commonly used drug groups:
Paracetamol (acetaminophen) – for post-operative pain and fever control. It works by reducing pain signals and lowering the body’s temperature set-point. Doses and intervals are strictly weight-based, and FDA labels stress maximum daily limits to avoid liver damage.FDA Access Data+1
Ibuprofen (NSAID) – sometimes used as an additional pain reliever after limb or nasal surgery when not contraindicated. It reduces inflammation and pain by blocking prostaglandin production. NSAIDs must be used carefully because of stomach, kidney, and bleeding risks.FDA Access Data+2FDA Access Data+2
Amoxicillin – a common antibiotic that may be prescribed after choanal or limb surgery or for ear, nose, or throat infections. It works by weakening bacterial cell walls. FDA labelling warns it should be used only for proven or strongly suspected bacterial infections to avoid resistance.FDA Access Data+2FDA Access Data+2
Amoxicillin–clavulanate (co-amoxiclav / AUGMENTIN) – broader-spectrum antibiotic sometimes used if there is a risk of resistant bacteria or sinus infections after nasal surgery. Clavulanate protects amoxicillin from breakdown by some bacteria. It has a higher risk of stomach upset, so dosing and duration are carefully limited.FDA Access Data+1
Topical nasal steroid sprays (e.g., fluticasone) – some ENT surgeons use these (off-label in small children) after choanal surgery to reduce local inflammation and scarring. They work by calming the immune response in the nasal lining. FDA labels warn about nosebleeds, ulceration, and fungal infection if misused, and young-child dosing requires specialist judgement.Bangladesh Journals Online+3FDA Access Data+3FDA Access Data+3
Saline nasal sprays or drops – technically not “drugs,” but regulated products that help keep the nose moist and clear. They are used several times a day after surgery to prevent crusts and blockages. The mechanism is purely mechanical and hydrating.Cleveland Clinic+2gavinmorrison.com+2
Topical antibiotic ointments (nasal or skin) – sometimes used around surgical incisions or nasal stents to prevent local infection. They work by killing bacteria on the mucosal or skin surface. Use is short-term to avoid resistance and allergy.Cureus+1
Eye lubricating drops (“artificial tears”) – used for eye comfort if blinking is incomplete after strabismus surgery or if surface dryness occurs. They work by forming a smooth, protective film over the eye.Cleveland Clinic+2AAPOS+2
Post-operative eye drops (antibiotic ± steroid) – after strabismus surgery, eye specialists often prescribe antibiotic or antibiotic-steroid combination drops for a short time. The purpose is to prevent infection and control inflammation while the eye muscles heal.Cleveland Clinic+2AAPOS+2
Anti-reflux or anti-nausea medicines – operations and anesthesia can worsen reflux or nausea. Short-term medicines reduce stomach acid or help stomach emptying to protect comfort and wound healing.Cureus+1
Sedation and anesthesia drugs (only in hospital) – used during surgeries (choanal repair, limb reconstruction, strabismus surgery). Their purpose is safe, pain-free surgery, with doses calculated by an anesthesiologist.CSurgeries+2Optecoto+2
Short-course oral steroids (selected cases) – occasionally used after complex nasal surgery to reduce swelling, strictly supervised due to side effects like mood changes and immune suppression. They work by strongly dampening inflammation.PMC+2MDPI+2
Decongestant drops (older children only, short term) – reduce nasal swelling for a few days in certain ENT settings. They work by tightening blood vessels in the nasal lining. Over-use can cause rebound congestion, so they are tightly limited.Cleveland Clinic
Various supportive medicines (stool softeners after pain medicines, anti-spasm drugs after orthopedic procedures, allergy medicines if allergic rhinitis is present, etc.) may be used on a case-by-case basis, but none are specific “treatments” for Goldblatt-Viljoen syndrome itself. All are chosen based on general pediatric evidence and FDA-approved labeling for their original indications.FDA Access Data+2FDA Access Data+2
Dietary Molecular Supplements
There are no supplements proven specifically for Goldblatt-Viljoen syndrome. However, general nutritional principles from pediatric and orthopedic care can support growth and healing:
Balanced protein intake – helps build muscles and repair tissues after surgery.
Adequate calcium and vitamin D – supports bone strength, which is especially important when bones are small or undergoing surgery.
Iron and B-vitamins when deficient – support red blood cell production and energy.
Omega-3 fatty acids from fish or suitable supplements – may support general brain and eye health.
Any supplement should be discussed with a pediatrician, because extra doses are not always better and can sometimes be harmful (for example, too much vitamin A or D).MSD Manuals+1
Because you asked for “dietary molecular supplements” in detail: in reality, for such an ultra-rare birth-difference syndrome, high-quality food is far more important than pills. Doctors usually recommend focusing on normal diet first and only adding supplements if blood tests show a deficit.
Immune-Support, Regenerative and Stem-Cell-Related Drugs
Right now, there are no immune-booster or stem-cell drugs specifically approved for Goldblatt-Viljoen syndrome or radial ray hypoplasia-choanal atresia.Genetic Diseases Info Center+2Orpha+2
What doctors actually focus on is:
Keeping vaccinations up to date
Promptly treating infections with appropriate antibiotics
Supporting nutrition and growth so the immune system can work well
Experimental regenerative approaches (like limb tissue engineering or stem-cell implants) are being researched for other conditions but are not standard, proven treatments for this syndrome and are not something a family should try to arrange outside of a controlled clinical trial.Wiley Online Library+2openorthopaedicsjournal.com+2
So, instead of listing 6 “stem-cell drugs” (which would be misleading), the realistic message is: good routine care, vaccines, healthy food, and timely surgery are the real “regenerative” tools we currently have.
Surgical Treatments
Surgery is the main evidence-based treatment for the core problems of Goldblatt-Viljoen syndrome.Cleveland Clinic+3Medicover Hospitals+3orthobullets.com+3
1. Endoscopic choanal atresia repair
This is usually done through the nose with an endoscope. The surgeon removes the bony or membranous plate blocking the back of the nose and opens a new passage (neo-choana). Sometimes a small stent is left in place for weeks or months to keep the airway open; some centers avoid stents to reduce irritation. The purpose is to create stable nasal airways so the child can breathe and feed more normally.gavinmorrison.com+4Bangladesh Journals Online+4CSurgeries+4
2. Surgery for radial longitudinal deficiency (radial club hand)
For severe radial deficiency, surgery may centralize the hand over the ulna and correct wrist angle after a period of stretching and splinting. In some cases, the index finger is “pollicized” (converted) to function as a thumb. The purpose is to improve reach, grip, and appearance. This is usually done in the first few years of life and often requires later revision surgeries.Musculoskeletal Key+3orthobullets.com+3Boston Children’s Hospital+3
3. Surgery for thumb hypoplasia
If the thumb is small but present, smaller reconstructive surgeries may tighten ligaments, transfer tendons, or adjust joints to make the thumb stronger and more useful. The purpose is better pinch, grasp, and fine motor skills.Musculoskeletal Key+1
4. Strabismus (esotropia) surgery
Eye muscle surgery can straighten eyes that turn inward. The surgeon shortens or repositions specific eye muscles so that the eyes point in the same direction. The purpose is better alignment, improved depth perception, and prevention of amblyopia. Surgery is usually done after careful eye exams and may be combined with glasses and patching.Ento Key+4Cleveland Clinic+4Cleveland Clinic+4
5. Revision or secondary surgeries
Because children grow, earlier corrections sometimes need revision—such as repeat choanal surgery if scarring narrows the airway again, or additional limb surgeries to keep up with growth. The purpose is to maintain function and prevent worsening deformity over time.Cureus+2openorthopaedicsjournal.com+2
Prevention and Risk Reduction
For an autosomal dominant, very rare condition, we cannot fully “prevent” it, but we can reduce risks and complications:
Genetic counselling before future pregnancies – helps families understand recurrence risk and options.Wiley Online Library+1
Early diagnosis in newborns of at-risk families – allows rapid airway management.NCBI+1
Timely choanal surgery – reduces chronic breathing and feeding problems.Cleveland Clinic+2Cureus+2
Regular ENT follow-up – catches restenosis early.Bangladesh Journals Online+1
Early orthopedic assessment – ensures the best window for limb reconstruction and splinting.orthobullets.com+1
Eye checks in infancy – prevent amblyopia from untreated esotropia.Cleveland Clinic+2Cleveland Clinic+2
Keeping vaccinations up to date – protects against infections that could make breathing problems worse.MSD Manuals
Avoiding tobacco smoke exposure – second-hand smoke irritates airways and increases infection risk.MSD Manuals+1
Good dental care – prevents extra health burdens from tooth decay and gum disease.MSD Manuals
Healthy weight and activity – supports heart and lung function and makes recovery from surgeries easier.MSD Manuals+1
When to See Doctors
Families of a child with Goldblatt-Viljoen syndrome should stay in close contact with their care team. Seek urgent medical attention if:
The baby or child has any sign of breathing distress (fast breathing, pulling in of the chest, bluish lips, noisy breathing at rest).Cleveland Clinic+1
Feeding becomes very difficult, with poor weight gain or dehydration.
There is fever, thick nasal discharge, or severe pain after surgery that could signal infection.Cureus+2FDA Access Data+2
One eye suddenly turns more inward or vision seems to worsen.Cleveland Clinic+1
The child complains of new weakness, severe pain in the arm or hand, or cannot use the limb as before.openorthopaedicsjournal.com+1
Even when there is no emergency, regular planned visits with ENT, orthopedics, ophthalmology, pediatrics, and therapy services are essential for best long-term results.Genetic Diseases Info Center+1
What to Eat and What to Avoid
Because evidence is generic rather than syndrome-specific, these are general pediatric nutrition tips adjusted for children with frequent surgeries:MSD Manuals+1
What to eat more of
Protein-rich foods – eggs, fish, lean meats, dairy, beans, and lentils support muscle and tissue repair after operations.
Calcium- and vitamin D-rich foods – milk, yogurt, cheese, and safe sun exposure (or doctor-approved supplements) help bones grow stronger.
Fruits and vegetables – provide vitamins, minerals, and antioxidants that support immunity and wound healing.
Whole grains – brown rice, whole-grain bread, and oats give steady energy for growth and rehab sessions.
Healthy fats – nuts, seeds, and oily fish (if age-appropriate and safe from choking) help brain development and overall health.
What to limit or avoid
Sugary drinks and junk snacks – add calories but few nutrients, and raise caries risk.
Very salty processed foods – can worsen thirst and may not support heart and kidney health.
Highly sticky or hard foods – can be risky right after nasal or jaw surgery; softer foods are better until doctors say chewing is safe.CSurgeries+1
Unpasteurized or undercooked animal products – higher infection risk, which is risky after surgery.
Unsupervised herbal or “immune booster” products – these can interact with medicines and have not been studied in this syndrome; always ask the doctor first.MSD Manuals+1
Frequently Asked Questions (FAQs)
1. Is Goldblatt-Viljoen syndrome the same as choanal atresia?
No. Choanal atresia means blockage at the back of the nose. Goldblatt-Viljoen syndrome is a specific rare syndrome where choanal atresia occurs together with radial ray limb defects and esotropia in a likely autosomal dominant pattern.MalaCards+2NCBI+2
2. How common is this syndrome?
It is extremely rare, with fewer than 1 in 1,000,000 people affected, and only a few related family cases described in the literature.Orpha+2Genetic Diseases Info Center+2
3. What causes Goldblatt-Viljoen syndrome?
The exact gene has not yet been clearly established in public databases, but the pattern of inheritance and family clustering strongly suggest a genetic mutation affecting limb, nasal, and eye development during early pregnancy.MalaCards+2Wiley Online Library+2
4. Can it be cured?
The genetic change cannot be “removed,” so the syndrome itself is lifelong. However, many of its features—blocked nose, limb position, and eye alignment—can be greatly improved with surgery, therapy, and supportive care.
5. Will my child be able to live a normal life?
Outcomes vary a lot depending on severity and associated problems. With early airway surgery, orthopedic and eye care, and good developmental support, many children can attend school, play, and lead active lives, though they may always have some physical differences.orthobullets.com+2openorthopaedicsjournal.com+2
6. Is there a specific “medicine” for Goldblatt-Viljoen syndrome?
No. Management is mainly surgical and supportive. Medicines are used for pain, infection, and inflammation around those treatments, based on general pediatric and ENT/orthopedic evidence rather than syndrome-specific trials.FDA Access Data+4Genetic Diseases Info Center+4Cleveland Clinic+4
7. Are stem-cell or gene therapies available?
At present there are no established stem-cell or gene therapies for this syndrome. Research in limb regeneration and gene editing is ongoing in labs and some other conditions, but not as a standard clinical option here.Wiley Online Library+2openorthopaedicsjournal.com+2
8. When is choanal atresia surgery usually done?
If both sides of the nose are blocked, surgery is often done very early in life to secure breathing. If only one side is blocked and the baby can breathe and feed well, surgery may be delayed and carefully planned.Cleveland Clinic+2PMC+2
9. Will my child need more than one choanal surgery?
Sometimes, yes. Scar tissue can form and narrow the new opening. Endoscopic follow-up allows doctors to spot and treat restenosis. Some children need revision surgery, but careful technique and follow-up reduce this risk.Bangladesh Journals Online+2Cureus+2
10. How many limb surgeries might be needed?
Children with radial ray deficiency often have staged surgeries—early soft-tissue stretching and centralization, possible thumb reconstruction, and later adjustments as they grow. The exact number depends on severity and how well the limb functions.orthobullets.com+2Boston Children’s Hospital+2
11. Is strabismus surgery safe?
Strabismus surgery is a common, well-studied procedure. Complications are possible but serious problems are rare when done in experienced centers, and success rates for alignment are high. Glasses or additional surgeries may still be needed.Cleveland Clinic+2AAPOS+2
12. Can my child play sports?
In many cases, yes, with some adaptations. The orthopedic and pediatric teams can suggest safe activities and any protective gear needed. Strength, balance, and vision should be checked regularly before high-impact sports.MSD Manuals+1
13. Will future pregnancies be affected?
If a parent has Goldblatt-Viljoen syndrome, there is a significant chance (often quoted as up to 50% for autosomal dominant conditions) that a child could inherit the altered gene. Genetic counselling can give more precise information and discuss options such as prenatal imaging.MalaCards+2Wiley Online Library+2
14. Can diet or supplements fix the bone and nose problems?
No diet or supplement can reverse the structural differences that formed in the womb. However, good nutrition is essential to support growth, immune function, and healing after surgeries. Supplements are only added if tests show a deficiency.MSD Manuals+1
15. What is the most important thing parents can do?
Stay closely linked with the specialist team, keep all follow-up appointments, protect your child’s nutrition and vaccinations, and support their emotional and social development. Loving, informed, consistent care at home is as important as any surgery or medicine.Genetic Diseases Info Center+2Orpha+2
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: December 31, 2025.
