Radial ray hypoplasia–choanal atresia syndrome (also called Goldblatt-Viljoen syndrome) is an extremely rare genetic condition. In this syndrome a child is born with under-development of the radial ray in the forearm (radius bone and thumb), blockage at the back of the nose (choanal atresia), and inward turning of one or both eyes (convergent strabismus/crossed eyes).Orpha+1
Doctors think the condition is inherited as an autosomal dominant trait in the few reported families, meaning a parent with the faulty gene can pass it on even if their own symptoms are mild. Only a very small number of families have been described, so almost all information comes from single case reports and expert experience rather than large clinical trials.Orpha+1
Radial ray hypoplasia-choanal atresia syndrome is an extremely rare birth defect syndrome. In this syndrome, the baby is born with three main problems:
poor growth or absence of the bones on the thumb side of the forearm (this is called “radial ray hypoplasia”),
a blockage at the back of the nose so air cannot pass properly (this is called “choanal atresia”), and
inward turning of one or both eyes (this is called “convergent strabismus” or “esotropia”). Qeios+4Orpha+4National Organization for Rare Disorders+4
This syndrome has been reported only in a very small number of families in the world. In the first report, a father and his two daughters were affected, and the pattern suggested autosomal dominant inheritance (only one changed gene copy from one parent is enough to cause the condition). Genetic Diseases Info Center+4Wiley Online Library+4PubMed+4
Because it is so rare, many doctors may never see a case in their whole career. Most of what we know comes from case reports and from knowledge about radial ray defects and choanal atresia in general. Paradigm+3PubMed+3Indian Academy of Medical Genetics+3
Other names
Doctors and books may use different names for the same syndrome. These are other names you may see:
Radial ray hypoplasia-choanal atresia syndrome – the full descriptive name. Orpha+1
Radial ray hypoplasia with choanal atresia – similar wording. MalaCards+1
Choanal atresia with radial ray hypoplasia – same features, words reversed. MalaCards+1
Goldblatt-Viljoen syndrome – name given after the first authors who described the family. Wiley Online Library+2MalaCards+2
All these names talk about one very rare disorder with the same main problems in the arm bones, nose, and eyes. MalaCards+2National Organization for Rare Disorders+2
Explanation of the body parts involved
To understand the syndrome, it helps to know what these body parts are:
The radial ray is the thumb side of the forearm and hand. It includes the radius bone, some wrist bones, and the thumb. If these parts do not form well, the thumb can be small or missing, the forearm may be short, and the wrist may bend toward the thumb side (radial club hand). Boston Children’s Hospital+3Indian Academy of Medical Genetics+3ScienceDirect+3
The choanae are the openings at the back of the nose that connect the nose to the throat. In choanal atresia, these openings are blocked by bone, membrane, or both, so air cannot move freely through the nose. ResearchGate+3NCBI+3JMAT Online+3
Convergent strabismus (esotropia) means one or both eyes turn inward. This can affect depth perception and clear vision if not treated. NCBI+2MalaCards+2
Types (clinical patterns)
Doctors do not have official “type 1, type 2” names for this syndrome, because only a few people have been reported. But for simple understanding, we can think about patterns or types based on how strong each feature is. This helps doctors describe what they see in each child. Genetic Diseases Info Center+3Wiley Online Library+3Orpha+3
Type A – Severe arm and nose involvement
In this pattern, the radius bone and thumb are very under-developed or nearly absent, and choanal atresia is often on both sides of the nose. Breathing problems at birth can be very serious and need quick help. www.slideshare.net+3ScienceDirect+3NCBI+3Type B – Moderate arm changes with choanal atresia
Here, the thumb may be small or differently shaped, and the radius may be short, but some function is still present. Choanal atresia may be on one side only, so breathing trouble is milder and may be noticed later. Boston Children’s Hospital+3ScienceDirect+3NCBI+3Type C – Mild limb change with choanal narrowing (stenosis)
Some people may have only a slightly unusual thumb or wrist, with a nose opening that is narrow but not fully blocked. Symptoms may be mainly noisy breathing, infections, or feeding problems. www.slideshare.net+3NCBI+3Paradigm+3Type D – Eye-dominant pattern
In some family members, the most visible problem may be convergent strabismus with milder limb and nose findings. They may still fit in the same family syndrome due to the same gene change. Genetic Diseases Info Center+3Wiley Online Library+3NCBI+3
These “types” are a helpful way to think, not official labels. Every child should be looked at individually by specialists. PubMed+2Wiley Online Library+2
Causes
The exact cause in each child is not always known. But research on this syndrome and on similar conditions gives us some likely causes and risk factors.
Single gene mutation with autosomal dominant pattern
The original family report showed that one parent and two children were affected, which fits an autosomal dominant gene change. A change in one copy of a gene that controls limb and facial development is likely the main cause. Genetic Diseases Info Center+4Wiley Online Library+4PubMed+4New (de novo) gene mutation in egg or sperm
In some very rare disorders, the gene change is new in the child and is not found in the parents. Studies of radial ray defects show many genetic changes and chromosomal errors that can arise for the first time in a family. Lippincott Journals+3Nature+3PMC+3Disturbed limb bud development of the radial ray
The limb forms from a “limb bud” in early pregnancy. If the signals that guide the thumb-side of the limb are disturbed, the radius and thumb may be small or missing, as seen in many radial ray deficiencies. Boston Children’s Hospital+3Indian Academy of Medical Genetics+3ScienceDirect+3Failure of recanalization of the nasal passages
Normally, a thin tissue at the back of the nose opens up (recanalizes) before birth. If this membrane does not open, choanal atresia happens. This is a well-known mechanism in choanal atresia. Wikipedia+3NCBI+3JMAT Online+3Abnormal interaction of neural crest cells and facial tissues
Cells from the neural crest help form the nose and midface. If their migration or growth is disturbed, the choanae may not develop normally, and other facial anomalies can appear. NCBI+2ResearchGate+2Chromosomal microdeletions or duplications
Research in children with radial ray deficiencies has found small missing or extra pieces of chromosomes (microdeletions or microduplications) that disrupt genes for limb formation. Similar changes might underlie some cases of this syndrome. PMC+3ScienceDirect+3Nature+3Shared genes with other radial ray syndromes
Many genes that cause Holt-Oram syndrome, VACTERL association, TAR syndrome, and other radial ray syndromes could, when changed in a different way, produce the triad of arm, nose, and eye problems. Wiley Online Library+4Lippincott Journals+4Indian Academy of Medical Genetics+4General genetic and environmental mix (multifactorial)
For choanal atresia in general, doctors think both genes and environmental factors play a role. This mixed “multifactorial” model may also be true here. Wikipedia+3Paradigm+3Healthline+3Maternal use of anti-thyroid drugs
Some studies show links between use of methimazole or carbimazole in pregnancy and choanal atresia in babies. This is not proven for this exact syndrome but is important as a possible risk. NCBI+3PMC+3Osmosis+3Maternal hyperthyroidism itself
Case reports suggest that uncontrolled high thyroid levels and their treatment may disturb early face development and be linked with choanal atresia. SciSpace+2Wikidoc+2Abnormal vitamin and mineral intake before pregnancy
Large population studies of choanal atresia found associations with very high intake of vitamin B12, zinc, and niacin and low intake of vitamin D and methionine before pregnancy. These do not prove cause, but they suggest that nutritional imbalance might affect nasal development. PMC+3CDC Stacks+3PubMed+3Maternal exposure to certain medicines, chemicals, or infections
Reviews on choanal atresia mention that some environmental substances and infections in early pregnancy may increase the risk of this kind of birth defect, although exact agents are not always clear. Healthline+3Apollo Hospitals+3Ginger Healthcare+3Possible effect of retinoic acid and endocrine disruptors
Experimental and clinical data suggest that drugs or chemicals that act like vitamin A (retinoic acid) or as endocrine disruptors may interfere with nasal and facial development and might be linked with choanal atresia. Wikidoc+2Wikipedia+2Chromosomal aneuploidies (extra or missing chromosomes)
Radial ray defects can be part of conditions like trisomy 18 or trisomy 13. These chromosomal problems affect many organs and might in rare situations combine with choanal atresia. Medscape+4Lippincott Journals+4Authorea+4Mutations in limb development genes
Genes that control patterning of the upper limb (such as those in the SHH or HOX pathways) are known to cause radial longitudinal deficiency when altered. Similar gene pathway problems may be involved here. PMC+3Indian Academy of Medical Genetics+3Radiology Key+3Mutations affecting craniofacial development genes
Many choanal atresia cases appear in syndromes with known craniofacial genes (for example within CHARGE spectrum). This shows that small changes in these genes can disrupt the choanae and may contribute in this syndrome too. NCBI+3ScienceDirect+3Paradigm+3Gene regulatory region changes (non-coding DNA)
Some children with radial defects have normal gene coding regions but changes in nearby “control” DNA. These regions act like switches that turn genes on or off during limb and face development. ScienceDirect+2Nature+2Epigenetic changes (gene activity changes without DNA change)
Factors like maternal illness, drugs, or nutrition may change how genes are switched on or off in the embryo, which could affect growth of the radial ray and choanae even if the DNA sequence is normal. Ovid+3Paradigm+3Iowa Research Online+3Being part of a wider complex of anomalies
Papers on choanal atresia show that it often appears together with other birth defects, suggesting that some unknown early disturbance in embryo development can affect many organs at once. Medscape+3Journal of Pediatrics+3NCBI+3Idiopathic (no clear cause found)
Even with all modern tests, many rare birth defect cases do not get a precise answer. The cause remains unknown, and doctors simply describe the pattern as this syndrome for clinical care and counseling. Nature+3PubMed+3Authorea+3
Symptoms
Symptoms can vary from very mild to very severe, depending on how blocked the nose is and how much the arm and eyes are affected.
Breathing difficulty right after birth
Babies with bilateral choanal atresia (both sides blocked) may turn blue, gasp, or struggle to breathe when their mouth is closed, because newborns mostly breathe through the nose. JMAT Online+3NCBI+3Wikipedia+3Noisy breathing and snoring
Partial blockage or narrowing of the choanae can cause loud breathing sounds, snoring, or a whistling noise, especially when the baby sleeps. Ginger Healthcare+3NCBI+3Wikipedia+3Breathing that gets better when the baby cries
A classic sign of bilateral choanal atresia is that the baby breathes better when crying (mouth open) and worse when quiet (mouth closed). Parents may notice this strange pattern early on. NCBI+2Wikipedia+2Feeding problems and choking with feeds
Because the baby has trouble breathing through the nose, sucking and swallowing milk can be hard. Some babies cough, choke, or stop feeding often. Healthline+3NCBI+3Wikipedia+3Poor weight gain or failure to thrive
Over time, feeding problems and extra work of breathing can lead to slow weight gain and small body size compared with other babies of the same age. Iowa Research Online+3Journal of Pediatrics+3NCBI+3Recurrent chest infections
Blocked nasal passages can cause retained mucus, which can travel down into the chest and lead to repeated respiratory infections or pneumonia. www.slideshare.net+3NCBI+3Journal of Pediatrics+3Visible deformity of the forearm and hand
The hand on the thumb side may look small, the thumb may be missing or thin, and the wrist may bend strongly toward the thumb side. This is typical of radial ray hypoplasia. Boston Children’s Hospital+3Indian Academy of Medical Genetics+3ScienceDirect+3Weak grip and trouble with fine hand tasks
Because of the bone and joint changes, older children may find it hard to grasp objects, write, or do small movements with their fingers. They may adapt by using the other hand more. Radiology Key+3Boston Children’s Hospital+3ScienceDirect+3Unequal arm length or limited joint movement
One forearm may be shorter than the other, or elbow and wrist movement may be reduced. This can affect how the child reaches and lifts things. Lippincott Journals+3Boston Children’s Hospital+3Radiology Key+3Inward turning of one or both eyes (convergent strabismus/esotropia)
The eyes may not look straight. One eye can point toward the nose, which may be constant or appear when the child is tired. This is a core feature of the syndrome. MalaCards+4Orpha+4National Organization for Rare Disorders+4Blurry vision or poor depth perception
If the eyes are not aligned, the brain has trouble joining the two images. Over time, this can cause lazy eye (amblyopia), double vision, or difficulty judging distance. NCBI+2MalaCards+2Persistent blocked-nose feeling and mouth breathing in older children
When the blockage is one-sided or partial, older children may mainly complain of a stuffy nose, chronic nasal discharge, and a habit of breathing through the mouth. Ginger Healthcare+3Wikipedia+3www.slideshare.net+3Chronic sinusitis and nasal discharge
Mucus that cannot drain properly can lead to chronic sinus infections, thick nasal discharge, and bad smell from the nose. JMAT Online+3Wikipedia+3www.slideshare.net+3Hearing problems in some children
Some reports of this and similar syndromes mention hearing loss or middle ear problems, likely because of associated craniofacial changes and frequent infections. ScienceDirect+3Symptoma+3Medicover Hospitals+3Emotional and social impact
Long hospital stays, visible limb differences, and eye misalignment can affect self-confidence, school activities, and social life. Families often need psychological and social support along with medical care. Authorea+3Lippincott Journals+3Wiley Online Library+3
Diagnostic tests
Doctors use many tests to confirm the diagnosis, to see how severe it is, and to look for other problems. Below are 20 important tests, grouped by type.
Newborn physical examination (Physical exam test)
Right after birth, the doctor checks breathing, skin color, heart rate, and muscle tone. In this syndrome, they may see breathing struggle, noisy breathing, and visible limb changes on the thumb side of the arm. Radiology Key+3NCBI+3Wikipedia+3Detailed limb and hand examination (Physical exam test)
The orthopaedic or hand specialist carefully inspects both arms and hands, measures their length, and feels the bones and joints to grade how severe the radial ray hypoplasia is. Boston Children’s Hospital+3Indian Academy of Medical Genetics+3ScienceDirect+3Eye alignment and vision examination (Physical exam test)
An eye doctor checks how the eyes move, whether they are straight, and how well each eye sees. Special tests look for convergent strabismus and risk of lazy eye. National Organization for Rare Disorders+3NCBI+3MalaCards+3Bedside nasal catheter patency test (Physical exam test)
A soft tube is gently passed through each nostril to see if it can reach the back of the throat. If the tube cannot pass, this strongly suggests choanal atresia on that side. www.slideshare.net+3NCBI+3Wikipedia+3Mirror or cotton airflow test (Manual test)
The doctor holds a small mirror or a piece of cotton under the nostrils. If the mirror does not fog or the cotton does not move with breathing, it suggests poor airflow and possible choanal blockage. Wikipedia+3JMAT Online+3NCBI+3Grip strength test (Manual test)
In infants, the doctor lets the baby grasp a finger to feel the strength and see how the thumb and fingers work. In older children, simple grip tools can measure strength in each hand. Radiology Key+3Boston Children’s Hospital+3ScienceDirect+3Joint movement (range-of-motion) testing (Manual test)
The doctor gently moves the wrist, elbow, and fingers to see how far they can bend and straighten. This helps plan therapy and possible surgery for the limb. ScienceDirect+3Boston Children’s Hospital+3Radiology Key+3Developmental and fine-motor screening (Manual test)
Simple tasks, such as picking up small objects or stacking blocks, are used to check how the child uses their hands in daily life. This guides occupational therapy. Boston Children’s Hospital+2Lippincott Journals+2Blood gas test (Arterial or capillary blood gas) (Lab/pathological test)
A small blood sample is taken to measure oxygen and carbon dioxide levels and blood acidity. This shows how much the breathing problem is affecting the baby’s body. Iowa Research Online+3NCBI+3Medscape+3Complete blood count and biochemistry panel (Lab/pathological test)
These routine blood tests check for anemia, infection, and organ function. They also help screen for other syndromes that may sometimes occur with radial ray defects. Thieme Connect+3Lippincott Journals+3Ovid+3Chromosomal microarray (Genetic lab test)
This test looks for tiny missing or extra pieces of chromosomes across the genome. It can detect many chromosomal microdeletions and microduplications known to cause radial ray defects and complex birth defect patterns. Radiology Key+3ScienceDirect+3Nature+3Gene panel or exome sequencing for limb and craniofacial genes (Genetic lab test)
These advanced tests read the DNA code of many genes linked to radial ray defects and choanal atresia. They may find a single-gene mutation that explains the autosomal dominant pattern in the family. Paradigm+4Nature+4PMC+4Pulse oximetry (Electrodiagnostic test)
A small sensor on the skin measures oxygen saturation in the blood. It is painless and helps doctors see how much the blocked nose is affecting oxygen levels. NCBI+2Medscape+2Electrocardiogram (ECG) (Electrodiagnostic test)
Sticky patches on the chest record the electrical activity of the heart. Since some children with radial ray defects can have heart anomalies, ECG helps to look for rhythm or conduction problems. Boston Children’s Hospital+3Medscape+3Lippincott Journals+3Auditory brainstem response (ABR) or newborn hearing screen (Electrodiagnostic test)
Soft sounds are played in the ears while electrodes on the head record brain responses. This test checks for hearing loss, which can appear in some syndromic choanal atresia cases. Journal of Pediatrics+3ScienceDirect+3Symptoma+3Polysomnography (sleep study) (Electrodiagnostic test)
In older children, a sleep lab test with sensors on the body can measure breathing, oxygen, heart rate, and brain waves during sleep, to see if blocked nasal airflow is causing sleep apnea. Paradigm+3NCBI+3JMAT Online+3Nasal endoscopy (Imaging/endoscopic test)
A thin, flexible camera is gently inserted into the nose. It allows the ENT specialist to see the nasal passages and the choanal area directly and to assess how blocked they are. Wikipedia+3NCBI+3JMAT Online+3CT scan of nose and sinuses (Imaging test)
A CT scan uses X-rays to create detailed pictures of the nose and face. It shows whether the blockage is bony, membranous, or mixed and helps plan surgery. CT is considered the gold standard imaging test for choanal atresia. Paradigm+3NCBI+3JMAT Online+3X-ray of forearm and hand (Imaging test)
X-rays clearly show the radius, wrist bones, and thumb bones. They help classify how severe the radial ray hypoplasia is and guide orthopaedic treatment choices. Boston Children’s Hospital+3ScienceDirect+3Indian Academy of Medical Genetics+3Heart and kidney ultrasound (Echocardiogram and renal ultrasound) (Imaging tests)
An echocardiogram uses sound waves to look at heart structure and function, while a renal ultrasound looks at the kidneys. These organs can sometimes be affected in radial ray defect syndromes, so doctors often screen them in children with this pattern. Medscape+4Lippincott Journals+4Lippincott Journals+4
Non-pharmacological treatments
Airway positioning and oral airway support
Soon after birth, babies with bilateral choanal atresia may struggle to breathe through the nose. Simple measures like placing the baby on their side or tummy (when monitored in hospital) and using an oral airway device can help keep the mouth and throat open so air can pass more easily. The purpose is to keep oxygen levels safe until surgery is possible. The mechanism is purely mechanical: changing head position and inserting a soft tube to bypass the blocked nasal passages.Cleveland Clinic+1Humidified oxygen and nasal saline
Gentle humidified oxygen through a mask or tent and frequent saline drops or sprays in the nose can ease crusting and dryness around the blockage. The purpose is to reduce local irritation, improve comfort, and make breathing a little easier until definitive repair. Saline works by thinning mucus and helping the tiny nasal hairs move secretions out; humidified oxygen prevents further drying of the airway lining.Cleveland ClinicFeeding support and modified feeding techniques
Babies who cannot breathe well through the nose may tire or choke while feeding. Nurses and speech-feeding therapists can suggest slower feeds, special nipples, or temporary feeding tubes (nasogastric or orogastric). The purpose is to maintain good nutrition and prevent aspiration (milk going into the lungs). Mechanically, alternative feeding routes and slower flow reduce the work of breathing and the risk of food entering the airway.Cleveland Clinic+1Physiotherapy for the arm and wrist
Gentle stretching and range-of-motion exercises can start in infancy for the affected arm. The purpose is to keep joints as flexible as possible, prepare the soft tissues for later surgery, and support motor development. The mechanism is gradual stretching of muscles and ligaments around the wrist, elbow, and fingers so that bones and joints can be better aligned and used.Boston Children’s HospitalSplinting and casting of the wrist and forearm
Removable splints or short-term casts can hold the wrist in a straighter position and slowly stretch tight soft tissues in the forearm. The purpose is to improve hand position for function and to make future surgeries easier and safer. The mechanism is continuous low-force stretch applied over many hours, which encourages soft tissue lengthening and partial correction of deformity.Boston Children’s HospitalOccupational / hand therapy
Occupational therapists help children learn how to use their hand in daily tasks like grasping, feeding, and playing. The purpose is to maximize independence and fine motor skills even when anatomy is different. The mechanism is task-specific training: the brain practices repeated movements, builds new nerve pathways, and learns alternative strategies (for example using the little finger instead of the thumb).Boston Children’s HospitalVision and strabismus therapy
Because convergent strabismus is part of the syndrome, early eye assessment is important. Patching the stronger eye, using glasses, and doing vision exercises can improve eye alignment and prevent amblyopia (“lazy eye”). The purpose is to protect sight in both eyes. The mechanism is controlled visual stimulation that encourages the brain to use the weaker eye and to develop more balanced nerve signals to the eye muscles.SymptomaRespiratory physiotherapy
Children with choanal atresia repair or narrow airways may produce extra mucus or get chest infections more easily. Respiratory physiotherapy (positioning, chest percussion, breathing exercises) helps clear secretions. The purpose is to reduce infection risk and improve lung function. The mechanism is mechanical mobilization of mucus and training of breathing muscles to work more efficiently.MedscapeDevelopmental and early-intervention programs
Babies with rare syndromes may be a bit delayed in gross or fine motor milestones because of repeated hospital stays or limb differences. Early-intervention services provide physiotherapy, occupational therapy, and play-based learning. The purpose is to support normal development as much as possible. The mechanism is enriched sensory and motor experience during the critical early years, which boosts brain plasticity and skill learning.Boston Children’s Hospital+1Parental education and emergency action plans
Parents learn how to spot signs of breathing distress, feeding problems, or infection and how to respond. The purpose is to catch complications early and reduce hospitalizations. The mechanism is purely practical and behavioral: better knowledge leads to faster decisions, earlier medical visits, and safer home care.Cleveland ClinicInfection-control practices at home
Good hand hygiene, avoiding smoke exposure, and staying away from people with known respiratory infections are simple but powerful measures. The purpose is to lower the chance of chest infections, sinusitis, and ear infections in a child with an already compromised airway. The mechanism is reducing contact with viruses and bacteria, giving the child’s immune system and airway more “reserve.”Cleveland Clinic+1Psychological support for family and child
Raising a child with a visible limb difference and serious airway issues is stressful. Counseling and support groups can help parents cope and later help the child with self-esteem and social challenges. The purpose is to reduce anxiety, depression, and family burnout. The mechanism is emotional processing, peer support, and learning coping strategies, which improves overall quality of life and adherence to medical care.Boston Children’s HospitalGenetic counseling for family planning
Because the condition appears to be autosomal dominant in the reported family, parents and older affected children may benefit from meeting a genetic counselor. The purpose is to understand inheritance, recurrence risk in future pregnancies, and options like prenatal ultrasound or targeted genetic testing if a causative gene is found. The mechanism is education plus, when available, testing to clarify risk and support informed choices.Orpha+1Regular ENT and audiology follow-up
Even after choanal atresia repair, children may have nasal narrowing, fluid behind the eardrum, or hearing loss. Regular visits to ENT and hearing specialists help detect problems early. The purpose is to protect hearing, speech development, and safe breathing. The mechanism is periodic examination, ear testing, and early minor procedures (like ear tubes) before damage becomes permanent.Cleveland Clinic+1Speech and language therapy
Nasal blockage, feeding issues, and hearing problems can all affect speech. Speech-language therapists help with articulation, resonance, and language skills. The purpose is clear communication and social participation. The mechanism is repeated practice of sounds and language patterns tailored to the child’s specific anatomical and hearing situation.Cleveland Clinic+1Use of adaptive devices and modified tools
Customized utensils, writing tools, or computer input devices can make daily tasks easier for a child with radial ray hypoplasia. The purpose is to improve independence at school and home. The mechanism is simple ergonomics: changing the shape, grip, or size of objects to match the child’s unique hand anatomy.Boston Children’s HospitalSchool-based accommodations and inclusive education
Individual education plans (IEPs) and small adjustments in school, like extra time for writing or help carrying heavy items, can make learning more comfortable. The purpose is equal participation without over-fatigue. The mechanism is reducing physical strain and allowing the child to focus energy on learning rather than constantly compensating for functional limits.Boston Children’s HospitalNutritional counseling
Dietitians can create feeding plans that provide enough calories and nutrients in small, easy-to-manage feeds for babies who tire easily. The purpose is to maintain growth curves and support immune function. The mechanism is adjusting food texture, calorie density, and feeding schedule to match the child’s breathing and swallowing limits.Cleveland Clinic+1Regular ophthalmology follow-up for strabismus
Eye specialists monitor eye alignment, vision in each eye, and depth perception. They can time non-surgical and surgical interventions to prevent permanent vision loss in one eye. The purpose is to keep both eyes seeing as well as possible. The mechanism is early detection of amblyopia and use of glasses, patching, and later surgery to improve eye muscle balance.SymptomaParticipation in rare-disease networks
Families can be referred to rare-disease networks or patient organizations, which often share up-to-date expert recommendations and practical tips. The purpose is to connect families to expertise and research opportunities. The mechanism is information exchange and sometimes access to multidisciplinary clinics or registries that improve coordinated care in ultra-rare syndromes.Orpha+1
Drug treatments
Important: there is no drug that “cures” radial ray hypoplasia–choanal atresia syndrome. Medicines are used to treat infections, pain, reflux, breathing issues, and other complications. Doses are always calculated by pediatric specialists based on weight and condition, following FDA-approved labels. Never use these medicines without a doctor’s prescription.
Amoxicillin (AMOXIL®, MOXATAG®) – penicillin-class antibiotic
Amoxicillin is a commonly used antibiotic for ear, nose, throat, and lower respiratory infections, which may be more frequent in children with choanal atresia or ear problems. Typical pediatric dosing is weight-based several times per day, as described in FDA labels. Side effects can include rash, diarrhea, and, rarely, serious allergic reactions. The purpose is to clear bacterial infections and prevent complications like pneumonia or sinusitis.FDA Access Data+2FDA Access Data+2Amoxicillin–clavulanate – broad-spectrum penicillin plus β-lactamase inhibitor
This combination extends coverage against bacteria that produce β-lactamase enzymes, which can make simple amoxicillin less effective. Doctors may choose it for more severe sinus, ear, or lung infections. Pediatric dosing is weight-based and adjusted for severity. Common side effects are diarrhea, stomach upset, and candidiasis; serious allergic reactions are possible. The mechanism is blocking bacterial cell-wall synthesis while clavulanate protects amoxicillin from breakdown.FDA Access DataCeftriaxone (ROCEPHIN®) – third-generation cephalosporin antibiotic
Ceftriaxone is a powerful injectable antibiotic used in hospital settings for serious infections like pneumonia or sepsis. In high-risk infants with airway obstruction or repeated infections, it may be lifesaving. Dose and frequency are individualized according to FDA labeling and infection type. Side effects include diarrhea, injection-site pain, and rare hypersensitivity or biliary sludge. It works by blocking bacterial cell-wall formation.FDA Access Data+1Ibuprofen suspension (MOTRIN® and generics) – NSAID pain and fever reliever
Ibuprofen is often used to reduce postoperative pain after surgery for choanal atresia or limb reconstruction and to treat fever from infections. Pediatric doses are weight-based with clear maximum daily limits in the FDA label. Side effects can include stomach irritation, kidney stress in dehydration, and rare allergic reactions; it should be avoided in some heart and kidney conditions. The mechanism is inhibition of COX enzymes, which decreases prostaglandins that cause pain and inflammation.FDA Access Data+2FDA Access Data+2Acetaminophen (paracetamol) – non-NSAID pain and fever reliever
Acetaminophen is another core medicine for pain and fever control, often alternated with ibuprofen under medical guidance. FDA information clearly defines maximum daily doses to avoid liver toxicity. Side effects are uncommon at correct doses but overdose can severely damage the liver. It works mainly in the central nervous system to reduce pain perception and lower the body’s thermostat in the brain.FDA Access Data+1Albuterol (salbutamol) inhalation solutions and inhalers
Albuterol is a short-acting β₂-agonist bronchodilator used if a child has wheezing or bronchospasm, which can worsen breathing problems in those with narrow nasal passages or lung infections. The FDA label describes weight-appropriate nebulizer and inhaler dosing. Side effects may include tremor, fast heart rate, and restlessness. The mechanism is relaxation of smooth muscle in the airways, opening the bronchi and improving airflow.FDA Access Data+3FDA Access Data+3FDA Access Data+3Inhaled corticosteroids (for example, budesonide)
In some children with reactive airways or co-existing asthma, inhaled corticosteroids may reduce airway inflammation and lower the frequency of wheezing attacks. Dosing follows pediatric asthma guidelines and FDA labels for each product. Common side effects include oral thrush and hoarseness if the mouth is not rinsed after use. The mechanism is dampening inflammatory gene pathways in airway cells, leading to less swelling and mucus.FDA Access DataProton-pump inhibitors (esomeprazole – NEXIUM® and generics)
Reflux is common in medically complex infants and can worsen breathing or cause aspiration. Esomeprazole lowers stomach acid, reducing irritation of the esophagus and possibly decreasing reflux-related coughing. Dosing and duration come from pediatric sections of FDA labeling. Side effects can include diarrhea, headache, and, with long-term use, altered mineral absorption. The mechanism is blocking the H⁺/K⁺-ATPase (“proton pump”) in stomach acid-producing cells.FDA Access Data+2FDA Access Data+2Intranasal saline and topical nasal medications
Although simple saline is not “drug-like,” some children may also receive short courses of topical steroid sprays under ENT guidance after choanal atresia repair to reduce local inflammation and scarring. The purpose is to maintain nasal patency. Side effects of topical steroids are usually mild (local dryness, occasional nosebleeds). They work by reducing inflammatory mediators in the nasal mucosa.Cleveland Clinic+1Broad-spectrum intravenous antibiotics (various agents)
In intensive-care or postoperative settings, clinicians may use other IV antibiotics (for example, combinations covering Gram-positive and Gram-negative bacteria) according to hospital protocols and culture results. Their purpose is to prevent or treat severe infections, such as pneumonia or sepsis. Mechanisms and side effects depend on the specific class (β-lactams, aminoglycosides, etc.), and choices are guided by FDA labels and antimicrobial-stewardship principles.FDA Access Data+1Topical ophthalmic antibiotics and lubricants
If strabismus or reduced eyelid closure causes exposure of the eye surface, topical antibiotic drops and lubricating gels may be prescribed to prevent infections and dryness. The purpose is to protect the cornea and preserve vision. The mechanism is local bacterial killing plus physical protection of the tear film. Product choice and dosing follow pediatric eye-care guidelines and individual drug labels.SymptomaAnalgesics after orthopedic and ENT surgery (hospital protocols)
In hospital, stronger pain medicines (for example, morphine or other opioids) may be used for a short period after major surgery. These are tightly controlled drugs with clear FDA warnings about respiratory depression and dependence. Their purpose is short-term comfort; the mechanism is blocking pain pathways in the brain and spinal cord. Use is limited and carefully monitored by anesthesiologists and surgeons.Cleveland Clinic+1Antiemetics (to control postoperative nausea)
After anesthesia and opioids, some children vomit, which can be dangerous if airway reflexes are weak. Antiemetic medicines reduce this risk. They work by blocking receptors involved in nausea pathways in the brain or gut. Dosing and safety information come from individual FDA-approved labels; prescribers choose the safest option for age and condition.Cleveland ClinicTopical skin antiseptics and antibiotic creams
At surgical and IV sites, antiseptic solutions and antibiotic creams may be used to prevent skin and soft-tissue infections. Their purpose is purely preventive. They work by killing bacteria on the skin surface before they can enter deeper tissues or the bloodstream. Side effects are usually mild irritation or contact allergy.FDA Access DataOral rehydration solutions and zinc (during diarrhea)
If antibiotics or infections cause diarrhea, oral rehydration and sometimes zinc supplementation are used according to pediatric guidelines to prevent dehydration and support mucosal healing. Zinc acts as a co-factor for many enzymes and may shorten diarrheal illness. Side effects at recommended doses are few, mainly mild nausea.U.S. Food and Drug AdministrationIron supplements (if anemia is present)
Some children with chronic illness may develop iron-deficiency anemia. Oral iron drops or syrups can restore iron stores and support growth and oxygen transport. The mechanism is providing elemental iron for hemoglobin and enzyme production. Side effects can include stomach upset and dark stools. Exact products and doses follow pediatric hematology guidance and product labeling.Indian Academy of Medical GeneticsVitamin D and calcium supplements
For children with limited sunlight exposure or poor intake, vitamin D and calcium may be added to support bone health, especially important when bones and joints are under stress from abnormal alignment and repeated surgeries. They work by improving calcium absorption and bone mineralization. Side effects at correct doses are rare; overdose can cause high calcium levels.Boston Children’s HospitalAntibiotic prophylaxis around surgery
Short courses of antibiotics may be given before and after ENT or orthopedic operations to reduce the risk of surgical-site infection. Choice and timing depend on hospital protocols and organism patterns. The mechanism is ensuring adequate blood and tissue levels of antibiotic at the time bacteria are most likely to enter tissues.Bangladesh Journals Online+1Mucolytic or hypertonic saline inhalations (when indicated)
In some centers, hypertonic saline nebulization is used to thin mucus and help cough it out, particularly in children with thick secretions. It works by drawing water into airway mucus, making it less sticky. Not all children need this, and dosing is guided by respiratory specialists and product labeling.Bangladesh Journals OnlineEmergency medications (for resuscitation in severe airway events)
In intensive settings, adrenaline (epinephrine), steroids, and other emergency medicines may be used according to resuscitation guidelines if a child has life-threatening breathing problems. These are not routine home medicines but part of advanced hospital care. Their mechanisms involve rapid support of heart function, reduction of airway swelling, and stabilization of blood pressure and oxygenation.Medscape
Dietary molecular supplements
For this ultra-rare syndrome, no specific supplement has been proven to change the basic disease, but some nutrients can support growth, bone health, and immunity when used under professional guidance.
Vitamin D – supports bone and immune health by helping the body absorb calcium and regulate immune cells. Pediatric endocrinology guidelines recommend weight-appropriate daily doses or periodic higher doses; overdosing can cause high calcium.
Calcium – needed for bone growth, muscle contraction, and nerve function. Adequate calcium is important when bones are structurally different and undergoing surgery. Too much without medical supervision can cause constipation and kidney stress.
Omega-3 fatty acids (DHA/EPA) – found in fish oil and some algal oils, they support brain and eye development and may modestly reduce inflammation. Doses depend on age and product concentration; side effects can include mild stomach upset or a fishy aftertaste.
Iron – for children with proven iron-deficiency anemia, iron supplements restore hemoglobin and energy levels. Excess iron in children without deficiency can be harmful, so testing is important before starting.
Zinc – supports immune function, wound healing, and taste. Short-term zinc supplementation during diarrhea or in deficiency can help, but long-term high doses may interfere with copper absorption.
Folic acid and vitamin B₁₂ – these vitamins support red blood cell production and nerve function. They are usually added only if blood tests show deficiency or if the child has a diet poor in animal products or leafy greens.
Multivitamin syrup – a balanced pediatric multivitamin can fill small gaps in diet for picky eaters or during prolonged illness. It should not replace real food and should not exceed age-appropriate daily values.
Probiotics – certain probiotic strains may help restore gut flora after antibiotic courses and reduce antibiotic-associated diarrhea. Evidence is strain-specific and mixed, so doctors select products with some pediatric data.
High-calorie oral supplements – for children with growth faltering due to feeding difficulties, energy-dense formulas can provide calories and protein in small volumes. They are often used under dietitian supervision to prevent malnutrition.
Protein-rich fortifiers – in infants or small toddlers, breast milk or formula can sometimes be fortified with extra protein and calories to meet growth targets without large feed volumes.
(These choices are based on general pediatric nutrition evidence; they are not specific to this single syndrome but are often used in complex congenital conditions.)Boston Children’s Hospital+1
Immune-boosting and regenerative / “stem cell–related” therapies
Because this condition mainly involves bone and nasal structure, there are no FDA-approved stem-cell drugs that specifically repair radial ray hypoplasia–choanal atresia syndrome. However, a few approaches can support immunity or represent possible future regenerative options:
Routine childhood vaccination
Standard immunization schedules protect against serious infections such as pneumonia, meningitis, and whooping cough, which could be especially dangerous in a child with airway problems. Vaccines work by safely “showing” the immune system pieces of germs so it can make antibodies and memory cells for future protection.PMCRSV monoclonal antibody prophylaxis (palivizumab, and newer nirsevimab in some regions)
High-risk infants with severe lung or airway problems may receive injections of palivizumab or nirsevimab to reduce hospitalizations from respiratory syncytial virus (RSV), according to guidelines and drug labels. These drugs are laboratory-made antibodies that neutralize RSV before it can cause severe disease. Side effects are usually mild injection-site reactions; serious allergy is rare.PMC+3FDA Access Data+3FDA Access Data+3Intravenous immunoglobulin (IVIG) in selected immune disorders
If a child with this syndrome is also found to have a significant antibody deficiency (which is not a known core feature but may occur by chance), IVIG infusions can supply pooled antibodies from human donors. The purpose is to prevent recurrent severe infections. The mechanism is passive immunity: ready-made antibodies circulate and help fight germs.Hematopoietic stem cell transplantation (HSCT) – only for specific associated diseases
HSCT is not a treatment for radial ray hypoplasia–choanal atresia itself, but if a child has a coexisting serious bone-marrow failure or immune defect with clear transplant indications, HSCT may be considered. Stem cells from bone marrow, blood, or cord blood rebuild the blood and immune system. This procedure has major risks and is reserved for life-threatening conditions with strong evidence.Experimental regenerative or tissue-engineering approaches
Research in tissue engineering and limb regeneration is ongoing in animal models and small human studies (for other conditions). This may one day help children with limb deficiencies or airway reconstruction, but at present it is experimental and not standard care. Families may encounter clinical trials, but participation must be carefully weighed with experts.Good sleep, nutrition, and mental-health support as “natural immune boosters”
Consistent sleep, nutritious food, stress management, and physical therapy all indirectly strengthen the immune system by reducing chronic stress hormones and ensuring the body has the building blocks it needs for immune cells and antibodies. These “everyday” interventions often have more proven benefit than untested commercial “immune boosters.”
Surgeries ( main procedures and why they are done)
Endoscopic choanal atresia repair
This is the key surgery for the nasal blockage. Using a small camera and instruments passed through the nose, the surgeon removes bone and soft tissue that block the back of the nasal passages and opens a new airway. Sometimes a small stent is placed temporarily. The goal is to create a stable, open nasal airway so the child can breathe through the nose and have fewer infections.Cleveland Clinic+2orphananesthesia.eu+2Tracheostomy (in severe airway emergencies)
In some very severe cases or when repeated surgeries are planned, doctors may create a tracheostomy (a small opening in the front of the neck into the windpipe) and insert a tube. This provides a direct airway that bypasses the nose and upper throat. The purpose is to secure breathing and reduce life-threatening episodes while other treatments are carried out.Wrist centralization/ulnarization surgery for radial longitudinal deficiency
For severe radial ray hypoplasia, surgeons may straighten the wrist and place it in line with the ulna, sometimes after gradual stretching with an external frame. This improves the hand’s position, makes the forearm more functional, and can help with grasping and daily tasks. Pins or internal fixation hold the bones while they heal.Boston Children’s HospitalThumb reconstruction or pollicization
If the thumb is very small or missing, surgeons may perform reconstruction or move the index finger into the thumb position (pollicization). The purpose is to create a functioning “thumb” for pinch and grasp, which is essential for hand function. This operation reshapes bones, tendons, and nerves to give the new thumb strength and movement.Boston Children’s HospitalStrabismus (eye muscle) surgery
For convergent strabismus, eye surgeons may shorten or reposition eye muscles so the eyes point more straight ahead. This can improve appearance and may help both eyes work together, especially if done early. The mechanism is changing the tension on eye muscles so that the resting position of the eyes is better aligned.Symptoma
Prevention
Because the basic syndrome is genetic and extremely rare, we cannot fully prevent it. However, we can try to prevent complications and support future pregnancies:
Early prenatal and newborn care – regular antenatal ultrasounds and immediate newborn assessment help detect limb and airway problems quickly so care can start early.Boston Children’s Hospital+1
Avoiding smoking, alcohol, and harmful drugs in pregnancy – reduces overall risk of congenital anomalies and growth problems, though not proven to specifically prevent this syndrome.
Genetic counseling for affected families – helps parents understand recurrence risk and consider testing options in future pregnancies.Orpha+1
Strict infection-prevention strategies – hand hygiene, vaccines, and avoiding sick contacts reduce lung and ear infections, which are more dangerous in children with airway and ear abnormalities.Cleveland Clinic+1
Prompt treatment of respiratory symptoms – early evaluation of wheeze, cough, or breathing difficulty can prevent progression to severe respiratory failure.Cleveland Clinic+1
Routine ENT and hearing checks – regular follow-up can prevent long-term hearing loss and chronic sinus disease by detecting issues early.Cleveland Clinic+1
Eye screening and early strabismus management – reduces risk of lazy eye and permanent vision loss.Symptoma
Nutritional optimization – adequate calories, protein, and micronutrients support wound healing, bone health, and immune function, helping children recover better from surgeries and infections.Boston Children’s Hospital
Safe home environment – smoke-free home, reduced indoor air pollution, and avoidance of allergens where possible help protect delicate airways.Cleveland Clinic
Psychosocial support and education – informed, supported families are better able to follow complex care plans, attend appointments, and respond early to problems, which indirectly prevents severe complications.Boston Children’s Hospital
When to see doctors
Parents or caregivers should seek urgent medical help if the child has fast or labored breathing, pauses in breathing, blue lips or skin, noisy breathing that suddenly worsens, or trouble feeding with choking or color change. These signs can mean serious airway blockage or infection and need emergency care.Cleveland Clinic+1
Prompt medical review is also important if the child is not gaining weight, has repeated ear or sinus infections, shows new or worsening hearing problems, or seems to lose skills or become unusually tired. Regular planned visits with ENT, orthopedic, eye, and pediatric specialists are part of long-term follow-up for this syndrome.Cleveland Clinic+2Boston Children’s Hospital+2
What to eat and what to avoid
Eat: energy-dense, soft foods – mashed potatoes with added oil, yogurt, smooth nut butters (when age-appropriate), and fortified porridges provide calories in small volumes, which is helpful for children who tire easily while feeding.
Eat: protein-rich foods – eggs, dairy, lentils, beans, fish, and lean meats support muscle, bone, and immune system repair, especially around surgery and during illnesses.
Eat: fruits and vegetables in easy textures – purees, soft cooked vegetables, and peeled fruits give vitamins and fiber while being gentle on swallowing and digestion.
Eat: adequate fluids – water, breast milk, formula, or oral rehydration solutions prevent dehydration, keep mucus thinner, and support circulation.
Eat: foods rich in iron and folate – leafy greens, beans, meat, and fortified cereals help prevent anemia, which can worsen fatigue and breathlessness.
Avoid: very hard, dry, or crumbly foods in small children – such as nuts, chips, and hard cookies, which may increase choking risk in a child who already struggles with coordinated breathing and swallowing.
Avoid: very spicy, acidic, or fried foods when reflux is a problem – these can irritate the esophagus and worsen coughing or vomiting.
Avoid: sugary drinks and excessive sweets – they add calories without nutrients and may worsen dental problems, especially if nasal obstruction leads to more mouth breathing and dry oral tissues.
Avoid: unpasteurized or unsafe foods – such as unpasteurized milk or undercooked meats, which can carry infections that are more serious in medically complex children.
Avoid: self-prescribed “mega-dose” supplements – high doses of vitamins or herbal products may interact with medicines or stress the liver and kidneys; always check with the child’s doctors before starting any supplement.
(These are general pediatric nutrition principles adapted for children with airway and feeding challenges.)Boston Children’s Hospital+1
Frequently asked questions
1. Is radial ray hypoplasia–choanal atresia syndrome life-threatening?
It can be life-threatening in the newborn period if both nasal passages are blocked and breathing is not supported quickly. With prompt airway management, surgery, and modern intensive care, many babies survive and can grow up, although they may need multiple surgeries and therapies.Cleveland Clinic+2Bangladesh Journals Online+2
2. Is there a cure for this syndrome?
There is no cure that corrects the underlying genetic cause yet. Treatment focuses on surgically fixing the blocked nose and limb differences, supporting breathing and feeding, and preventing complications. Early and ongoing multidisciplinary care can greatly improve quality of life.Orpha+2Boston Children’s Hospital+2
3. How rare is this condition?
Orphanet and other rare-disease databases report fewer than 1 case per million people, with only a single family clearly described in the literature, making it one of the ultra-rare syndromes.Orpha+2MalaCards+2
4. Is the condition always inherited?
The reported family suggests autosomal dominant inheritance, but because so few patients are known, experts cannot be completely certain. A genetic specialist can review family history and, where possible, arrange testing and counseling for parents and older children.Orpha+1
5. Will my child definitely need choanal atresia surgery?
If both nasal passages are blocked, surgery is almost always needed early in life to allow safe breathing. If only one side is blocked and symptoms are mild, surgery may be delayed until the child is older, but most children eventually benefit from choanal atresia repair to reduce infections and improve breathing.Cleveland Clinic+2Bangladesh Journals Online+2
6. How many surgeries might be required for the arm?
The number and timing depend on how severe the radial ray hypoplasia is. Some children need only splinting and therapy; others may have several operations over years to straighten the wrist, reconstruct the thumb, and occasionally adjust the forearm or elbow. Orthopedic surgeons explain a long-term plan tailored to each child.Boston Children’s Hospital
7. Can my child use their hand normally?
Many children learn to use their arm very well, especially if therapy and surgery are started early. The hand may always look different and have some limits in strength or range of motion, but children often adapt creatively and manage daily tasks, school activities, and play.Boston Children’s Hospital
8. Will my child’s eyesight be normal?
Convergent strabismus can affect depth perception and cause a “lazy eye” if untreated. With early eye checks, glasses, patching, and possible muscle surgery, many children achieve good usable vision in both eyes. Lifelong regular eye follow-up is important.Symptoma
9. Does this syndrome affect the brain or intelligence?
Available reports focus mainly on limb and airway findings and do not consistently show brain malformations or intellectual disability; however, data are very limited because so few cases exist. Development can still be affected indirectly by repeated hospitalizations and sensory issues, so early developmental support is recommended.Orpha+1
10. Are there special risks with anesthesia and surgery?
Yes. Airway management is more complex because of nasal blockage and potential facial differences. Anesthesiologists experienced with choanal atresia and syndromic children plan carefully, sometimes using fiber-optic techniques or backup tracheostomy. This is why surgery is best done at centers experienced with rare pediatric airway disorders.orphananesthesia.eu+1
11. Can physical therapy really change bone deformity?
Therapy alone cannot fully correct bone shape but can significantly improve joint flexibility and muscle balance. This often makes later surgery easier and helps the child function better every day. Splinting and surgery then build on this improved soft-tissue status.Boston Children’s Hospital
12. Are “stem cell cures” available now?
No approved stem-cell drug or procedure currently exists that can re-grow a missing radius or fully correct this syndrome. Stem-cell and tissue-engineering research is active in many fields, but families should be very cautious about unproven or commercial “stem-cell” offers that are not part of regulated clinical trials.
13. Can my child play sports?
With medical clearance, many children can take part in age-appropriate physical activity. Some contact sports may be limited depending on wrist stability, airway status, and vision. Physiotherapists and doctors can suggest safe sports and protective gear to encourage participation while minimizing injury risk.Boston Children’s Hospital
14. How often will my child need follow-up?
In early life, visits may be frequent: regular checks with the pediatrician, ENT, orthopedics, and ophthalmology. As the child grows and stabilizes, appointments may become yearly or as needed. Any new breathing, feeding, hearing, or vision problem should trigger an earlier visit.Cleveland Clinic+2Boston Children’s Hospital+2
15. Where can we find reliable information and support?
Trusted sources include rare-disease databases such as Orphanet, MedGen, and national rare-disease organizations, as well as major children’s hospitals with hand/upper-extremity and airway programs. Because this syndrome is ultra-rare, connecting with experts in radial longitudinal deficiency and choanal atresia can be more helpful than searching general internet forums.Cleveland Clinic+3Orpha+3MalaCards+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: December 31, 2025.
