Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is a very rare genetic condition that starts before birth. It mainly affects the nose (back of the nasal passages), the ears and hearing, the heart, and the shape of the face and head. In this syndrome, the passages at the back of the nose (choanae) are often very narrow or completely blocked, many babies have hearing loss, some have heart defects, and there are typical facial features such as a high nose bridge, narrow eye openings, and large ears. MedlinePlus+1
Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is an extremely rare genetic condition. It is also called Burn-McKeown syndrome or oculootofacial dysplasia. In this syndrome, a baby is born with bilateral choanal atresia (both back parts of the nose are blocked), sensorineural hearing loss, heart defects, and a special pattern of face differences such as narrow eye openings, lower eyelid coloboma (a notch in the lid), a high narrow nose, short upper lip groove, cleft lip or palate, and large ears. Most children have normal intelligence, but many medical problems need early and ongoing care. ClinGen+1
Scientists have linked this syndrome to changes (variants) in the TXNL4A gene, which plays a role in how RNA is processed inside cells during early development. Problems in this gene disturb normal formation of the nose passages, ears, heart, and facial bones. Because of this, many systems are affected from birth. The pattern of symptoms overlaps with CHARGE syndrome (coloboma, heart defects, choanal atresia, growth delay, genital and ear anomalies), so careful genetic testing is often needed to make the correct diagnosis. TogoVar+2NCBI+2
This condition is one form of what doctors call TXNL4A-related craniofacial disorders. These conditions all involve changes in a gene called TXNL4A, which is important for how the face and head develop in the baby before birth. People with this syndrome usually have normal intelligence, but they may need medical and sometimes surgical help for breathing, hearing, feeding, and heart problems. Encyclopedia+1
Other names
This syndrome is known by several other names in medical books and databases. All of these names describe the same or very closely related condition: MedlinePlus+2Orpha+2
Burn-McKeown syndrome (BMKS)
Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome
Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance
Oculootofacial dysplasia (OOFD)
Oculo-oto-facial dysplasia
Branchio-oculo-facial syndrome, Hing type (overlapping form described in some families)
Doctors may use slightly different names depending on the exact features in a patient or which article they are reading, but they are all talking about the same rare pattern of nose blockage, hearing loss, heart problems, and special facial features linked to TXNL4A gene changes. NCBI+1
Types
Doctors do not usually split this syndrome into many strict “types”, but they see it as part of a spectrum of TXNL4A-related craniofacial disorders. This spectrum can be thought of in simple “types” like this: NCBI+1
Classic Burn-McKeown syndrome type
In this form, the person has the full “classic” pattern: blocked or very narrow choanae (back of the nose), clear hearing loss, heart defects, and typical facial features such as narrow eye openings, lower eyelid gaps, prominent nose, short upper-lip groove, cleft lip or palate in some, and large ears.Milder craniofacial type with choanal atresia and minor anomalies
In this form, the person mainly has choanal atresia or stenosis plus some but not all of the typical facial changes. Hearing loss or heart problems may be mild or may not be present.Isolated choanal atresia type related to TXNL4A
Here, the only main finding is choanal atresia or stenosis, with very few obvious facial or heart changes. Genetic testing may still show a TXNL4A-related problem, placing it on the same spectrum as Burn-McKeown syndrome.
These “types” help doctors describe how severe and how broad the features are in each person, but they are all linked by the same gene and by similar problems in face and head development before birth. TogoVar+1
Causes
The main real cause of this syndrome is a change (mutation) in the TXNL4A gene. All the “causes” below are different ways of explaining or breaking down how and why that gene change leads to the condition. MedlinePlus+1
TXNL4A gene mutation
The basic cause is a harmful change in the TXNL4A gene. This gene gives instructions to make a small protein that is part of a bigger machine in the cell called the major spliceosome. When the gene is changed, the protein does not work properly. MedlinePlus+1Promoter region deletions near TXNL4A
In some people, the problem is not inside the gene itself but in a control area just before the gene, called the promoter. Small deletions there reduce how much TXNL4A protein is made, which still leads to the syndrome. MedlinePlus+1Autosomal recessive inheritance
The condition follows an autosomal recessive pattern. This means a child must receive one faulty TXNL4A copy from each parent. The parents are usually healthy “carriers” with only one changed copy. MedlinePlus+1Having two faulty copies of TXNL4A
When the child has two non-working copies of TXNL4A, the amount of the TXNL4A protein becomes too low. This shortage starts a chain of problems in the cell’s RNA processing system. EncyclopediaSpliceosome assembly problems
TXNL4A is part of the major spliceosome, a complex that cuts and joins pieces of messenger RNA (mRNA). When TXNL4A levels are low, the spliceosome is not built correctly, so it cannot process RNA in the normal way. MedlinePlus+1Abnormal mRNA processing
Because the spliceosome is not working well, some mRNA molecules are cut in the wrong places or not cut at all. This means many other proteins in the cell are not made in the right form or amount. MedlinePlusSpecial sensitivity of craniofacial development
Research shows that problems in spliceosome genes often affect the head and face more than other parts of the body. Face and skull development seems to be very sensitive to even small changes in RNA processing, which helps explain the craniofacial features. EncyclopediaDisturbed development of the nasal passages (choanae)
During early pregnancy, the back of the nose should open to the throat. When the gene system is disturbed, this opening may stay blocked or narrow, causing choanal atresia or stenosis. MedlinePlus+1Abnormal formation of the eyelids and eyes
The same disturbed facial development can cause narrow eye openings and gaps (colobomas) in the lower eyelids, especially on the inner side. Orpha+1Abnormal shape of the nose and midface
Gene changes can lead to a high nose bridge, widely spaced eyes, and a short space between the nose and upper lip (short philtrum). These are all part of craniofacial dysmorphism in this syndrome. MalaCards+1Ear structure changes
The outer ears may become large and stick out. Inside the ear, the small bones or inner ear structures may also form abnormally, contributing to hearing loss. MedlinePlus+1Inner ear (sensorineural) hearing problems
Abnormal RNA processing can affect the tiny hair cells and nerves in the inner ear, causing sensorineural hearing loss, which is common in this syndrome. MedlinePlus+1Middle ear (conductive) hearing problems
Structural changes or fluid in the middle ear can also block sound passing to the inner ear. Together with inner ear problems, this leads to “mixed” hearing loss. MedlinePlus+1Heart development disturbance
The gene problem can also affect some tissues of the developing heart, so some babies are born with heart defects such as patent ductus arteriosus (PDA) or holes in the heart walls. MedlinePlus+1Kidney and urinary tract anomalies
In some people, kidney shape or number can be abnormal (for example, one kidney missing or small). This reflects a more general disturbance of embryonic development linked to the same gene changes. NCBI+1Short stature from growth disturbance
Some children with this syndrome are a bit shorter than expected. The exact pathway is not fully known, but growth may be influenced by the same gene defects that affect other organs. MedlinePlus+1Consanguinity (parents related by blood) as a risk factor
In some reported families, the parents were related (for example, cousins). When parents are related, there is a higher chance that both carry the same rare TXNL4A mutation, which increases the chance of an affected child. Orpha+1Family history of similar features
Having older siblings or relatives with choanal atresia, typical facial features, and hearing loss may indicate inherited TXNL4A mutations and a higher chance for the syndrome in future children. Orpha+1New (de novo) gene changes in rare cases
While most cases are inherited from carrier parents, it is possible that a new mutation could occur in the TXNL4A gene in the egg or sperm, creating the condition for the first time in a family. This has been suggested in some genetic reports. Encyclopedia+1Very rare frequency and limited environmental role
Only a small number of families with this syndrome have been reported worldwide, and there is no clear evidence that infections, medicines, or other outside factors alone cause it. The central problem is the genetic change in TXNL4A. Orpha+1
Symptoms
Symptoms can vary from person to person, even within one family. Below are 15 important symptoms explained in simple language.
Blocked or very narrow back of the nose (choanal atresia/stenosis)
Many babies are born with the passages at the back of the nose closed or very narrow. This makes it hard for them to breathe through the nose, especially while feeding, and can cause noisy or difficult breathing soon after birth. MedlinePlus+1Breathing trouble in newborn period
Because the back of the nose is blocked, newborns may turn blue, breathe fast, or seem to struggle to breathe. They may improve when they cry (because they breathe through the mouth) and worsen when quiet. This can be an emergency and often needs quick care. MedlinePlus+1Feeding difficulties and poor weight gain
Babies who cannot breathe well through the nose may have trouble sucking and swallowing at the same time. This can lead to feeding problems and slow weight gain, especially if there is also a heart defect. MedlinePlus+1Mixed hearing loss (sensorineural and conductive)
Many people with this syndrome have permanent hearing loss in both ears. The loss may come from inner ear nerve problems plus middle ear problems, so it is called “mixed” hearing loss. MedlinePlus+1Frequent ear infections or fluid in the middle ear
Some children have repeated ear infections or fluid behind the eardrum, which can worsen hearing problems and may require tubes or other treatment. Orpha+1Narrow eye openings (short palpebral fissures)
The eye slits are often shorter and narrower than usual. This contributes to the typical facial look of the syndrome. Orpha+1Gaps in the lower eyelids (lower lid coloboma)
Some people have a small notch or gap in the lower eyelid, often on the inner side, sometimes with eyelashes close to the gap. This is called a coloboma and is part of the typical facial pattern. Orpha+1Widely spaced eyes (hypertelorism)
The distance between the eyes may be wider than average. This feature combines with the eyelid and nose changes to give the characteristic facial appearance. Orpha+1High bridge of the nose and prominent nose
The nose often looks high and prominent, with a noticeable bridge. This is one of the most visible craniofacial features. MalaCards+1Short philtrum and small mouth opening (microstomia)
The space between the nose and upper lip (philtrum) is short, and the mouth opening may be relatively small, which adds to the facial pattern and can sometimes affect feeding or dental care. MalaCards+1Cleft lip and/or cleft palate in some patients
A few people have a split in the upper lip and/or an opening in the roof of the mouth (palate). This can cause feeding and speech problems and often needs surgery. Orpha+1Large, protruding ears and preauricular tags
The ears are commonly large and stick out more than usual. Some people also have small skin tags in front of the ears. These are harmless but are a helpful clue for doctors. Orpha+1Heart defects (especially PDA and septal defects)
Some babies have heart problems, such as a duct between major arteries that does not close (patent ductus arteriosus) or holes in the walls between heart chambers. These can cause fast breathing, poor feeding, or heart failure if severe. MedlinePlus+2MalaCards+2Mild short stature
Many affected individuals are a bit shorter than average for their age. This short stature is usually mild and does not affect intelligence. MedlinePlus+1Kidney and limb differences in some cases
A few patients have kidney anomalies (such as one kidney missing or under-developed) or minor limb features (like partial fusion of two toes). These are not always present but have been reported. NCBI+1
Diagnostic tests
Physical exam
General physical examination and growth check
The doctor looks carefully at the baby or child from head to toe, measures height, weight, and head size, and compares these with normal growth charts. This helps to see if there is short stature or other general health issues. MedlinePlus+1Craniofacial inspection
The doctor studies the shape of the head, face, eyes, nose, mouth, and ears. Typical features such as narrow eyelids, lower eyelid gaps, a high nasal bridge, short philtrum, cleft lip or palate, and large ears can suggest Burn-McKeown syndrome. Orpha+2MalaCards+2Nasal and airway examination
Using a light and sometimes a small nasal speculum, the doctor looks into the nostrils. Poor air movement or difficulty seeing the back of the nose can suggest choanal atresia or stenosis, and further imaging is then needed. MedlinePlus+1Ear examination with otoscope
The doctor looks into the ears with an otoscope (a lighted tool) to check the ear canal, eardrum, and possible fluid or structural changes. This helps to understand hearing problems and plan hearing tests. MedlinePlus+1Heart and lung examination
The doctor listens with a stethoscope for heart murmurs, extra sounds, or abnormal breathing noises. Abnormal heart sounds may suggest defects like PDA or septal defects, which require echocardiography. MedlinePlus+1
Manual tests
Simple nasal airflow test (mirror or cotton test)
A small mirror or cotton wool can be held under each nostril while the child breathes. Little or no fog on the mirror, or little movement of the cotton, suggests poor airflow through that side of the nose and supports the suspicion of choanal atresia. MedlinePlus+1Gentle nasal catheter pass test
In a controlled setting, a thin, soft tube may be gently passed into the nose. If it cannot pass into the back of the nose, this suggests a blockage of the choana. This is usually followed by imaging for confirmation. MedlinePlusBedside feeding observation
The nurse or doctor watches the baby during feeding to see if breathing becomes difficult, if the baby tires quickly, or if there is choking. Trouble feeding while trying to breathe through the blocked nose is a practical sign of choanal atresia plus possibly heart disease. MedlinePlus+1Basic developmental check
Simple manual tasks such as tracking a toy with the eyes, turning to sounds, or reaching for objects are checked. Most children with this syndrome have normal intelligence, but this exam helps rule out other conditions and guides support needs. MedlinePlus+1
Lab and pathological tests
Genetic testing for TXNL4A mutations
A blood sample (or sometimes saliva) is taken and DNA is examined to look for mutations or small deletions affecting TXNL4A or its promoter region. Finding two harmful changes in this gene confirms the diagnosis. NCBI+2MedlinePlus+2Chromosomal microarray or gene panel tests
Sometimes doctors use a broader test that checks many genes or large pieces of chromosomes. This helps to confirm TXNL4A-related disease and to rule out other syndromes with similar facial and ear features. Encyclopedia+1Routine blood tests (complete blood count, biochemistry)
Basic lab tests can check for anemia, infection, electrolyte problems, and general health. These tests do not diagnose the syndrome by themselves but are useful for safe planning of surgery and other treatments. Orpha+1Arterial blood gas in newborns with breathing problems
In sick newborns, a small blood sample may be taken to measure oxygen and carbon dioxide levels. Abnormal results show how serious the breathing problem is and whether urgent airway support is needed. MedlinePlus+1Metabolic or endocrine screening when indicated
If a child has unusual growth or other unexplained symptoms, doctors may order tests for hormones or metabolic conditions. These tests are usually to rule out other causes rather than to confirm Burn-McKeown syndrome. Orpha+1
Electrodiagnostic tests
Brainstem auditory evoked response (BAER/ABR)
This test uses small electrodes on the head and clicks in the ears to measure how sound signals travel along the hearing nerve to the brainstem. It is very helpful for checking the degree of hearing loss in babies and young children who cannot respond to normal hearing tests. MedlinePlus+1Otoacoustic emissions (OAE) testing
A tiny probe is placed in the ear canal to measure sounds produced by the inner ear itself. If these emissions are absent or reduced, it suggests inner ear (sensorineural) hearing loss, which is common in this syndrome. MedlinePlus+1Electrocardiogram (ECG)
Sticky pads and wires are placed on the chest to record the electrical activity of the heart. The ECG helps detect rhythm problems and can support the evaluation of heart defects associated with the syndrome. MedlinePlus+1
Imaging tests
CT scan of nose and sinuses (CT of facial bones)
A CT scan uses X-rays and a computer to create detailed pictures of the bones and air spaces in the face. This is the key test to show choanal atresia or stenosis and to see exactly how the back of the nose is blocked before surgery. MedlinePlus+1Echocardiogram (heart ultrasound)
An echocardiogram uses sound waves to make moving pictures of the heart. It shows the heart chambers, valves, and blood flow and is essential for detecting PDA or septal defects in children with this syndrome. MedlinePlus+1Renal (kidney) ultrasound and other organ imaging when needed
In some patients, an ultrasound of the kidneys and urinary tract is done to check for missing or small kidneys or other structural problems. Other scans may be used if doctors suspect additional organ anomalies. NCBI+1
Treatment Goals and Multidisciplinary Care
The main goals of treatment are to keep the child breathing safely, ensure good feeding and growth, protect hearing and speech development, repair heart and facial defects when needed, and support learning and emotional well-being. For choanal atresia, the priority in a newborn is to open the airway and allow safe feeding, often with early surgery. For heart defects, doctors decide on medicines and surgery according to the specific lesion. For hearing loss, early testing and hearing devices protect speech and language. PMC+2StatPearls+2
Because this is a lifelong condition, families need long-term follow-up. Regular visits with ENT and craniofacial teams check breathing and nasal patency, while cardiology follow-up monitors heart function. Audiology and speech therapy visits follow hearing and communication progress. Genetic counseling helps parents understand recurrence risk and possible prenatal testing in future pregnancies. Psychologists, social workers, and early-intervention programs support the child’s learning and behavior and help the family cope with complex care needs. PMC+2Charge Syndrome Foundation+2
Non-Pharmacological Treatments (Therapies and Other Approaches)
Below are key non-drug treatments. Each child will not need all of them, and the exact plan must be made by the medical team.
1. Airway positioning and basic breathing support
In newborns with blocked nasal passages, simple steps like side-lying or slight head elevation can make breathing easier. Nurses and doctors watch oxygen levels and breathing pattern. If breathing is hard, they may use an oral airway, nasal trumpet, or temporary tube in the windpipe (intubation) until surgery can be done. These measures do not cure the blockage but keep the baby safe until a more permanent solution is ready. PMC+1
2. Specialized feeding techniques
Many babies have difficulty sucking and swallowing because of choanal atresia or cleft lip/palate. Special nipples, slow-flow bottles, and carefully upright positions are used so the baby can feed without choking or breathing stops. A speech or feeding therapist can teach parents how to pace feeds and recognize stress signs. Sometimes a tube through the nose or directly into the stomach is needed for a while to keep nutrition adequate. PMC+1
3. Humidification and gentle nasal care
After nasal surgery, humidified air and saline drops or sprays help keep the inside of the nose moist and reduce crusts. Gentle suctioning, taught by the ENT team, helps clear secretions. This non-drug care makes it easier for the child to breathe through the nose and can reduce the risk of scarring and narrowing after choanal repair. PMC+2Dr. Sanu+2
4. Early hearing rehabilitation (hearing aids and bone-anchored devices)
Sensorineural or mixed hearing loss is common, so early and repeated hearing tests are essential. If hearing loss is confirmed, hearing aids or bone-anchored hearing devices can be fitted even in infancy. The goal is to ensure the child hears speech clearly during the critical window for language development. Better hearing also improves balance, safety, and school performance. ClinGen+1
5. Intensive speech and language therapy
Because of hearing loss, cleft palate, or cranial nerve issues, many children struggle with speech clarity and language. Speech-language pathologists use play-based exercises to build vocabulary, sound production, and social communication. Therapy often starts in early childhood and continues through school years. Parents are taught daily language-rich activities, like reading aloud and naming objects, to help the child practice. NCBI+1
6. Developmental and physical therapy
Some children may have slower motor skills or poor balance due to ear and vestibular problems. Physical therapists use exercises to improve neck control, sitting, standing, and walking. Occupational therapists support fine motor skills and self-care tasks like feeding and dressing. Early intervention programs provide home-based or center-based therapy in many countries and can greatly improve long-term independence. NCBI+2Cleveland Clinic+2
7. Craniofacial and orthodontic care
Craniofacial surgeons and orthodontists monitor facial growth, jaws, and teeth. They plan corrective procedures and orthodontic treatment to improve bite, facial symmetry, and function. This can make chewing easier, improve speech, and also help with social confidence. Treatment may involve braces, jaw surgery, or minor procedures on eyelids or nose as the child grows. Orpha+1
8. Cardiac rehabilitation and activity guidance
After heart surgery or if there is ongoing heart disease, cardiologists and physiotherapists guide safe levels of activity. They encourage gentle exercise as tolerated, teach caregivers how to watch for warning signs like breathlessness or fatigue, and may eventually approve more active play and sports when the heart is stable. The goal is to balance safety with good physical fitness and quality of life. PMC+1
9. Psychological and family counseling
Having a child with a rare syndrome can be emotionally heavy for parents and siblings. Psychologists, counseling services, and rare-disease support groups offer a safe place to share feelings, stress, and worries. They also help with coping strategies, managing medical appointments, and dealing with school issues or bullying. Mental health support is as important as physical treatment. National Organization for Rare Disorders+1
10. Educational support and individualized school plans
Some children will need extra help at school because of hearing loss, frequent hospital visits, or learning difficulties. Teachers, special educators, and school psychologists can create an individualized education plan (IEP) that includes seating near the teacher, use of FM systems for hearing, extra time for tasks, or adapted materials. Early communication between the medical team and school helps the child succeed academically and socially. Cleveland Clinic+1
(Because of space, not all possible non-pharmacological options are listed; real-life care may include many additional tailored therapies.)
Drug Treatments (Supportive, Not Disease-Curative)
There is no single drug that cures choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome. Medicines are used to manage complications such as heart failure, infections, pain, reflux, or nasal inflammation. Dosage and timing are always calculated individually by the child’s doctors, usually based on weight and organ function. Below are typical drug classes often used; they are described in simple language and based on evidence-based FDA labeling where available.
1. Proton pump inhibitors (for reflux and esophagitis)
Drugs like omeprazole (Prilosec) reduce acid production in the stomach. In children with severe reflux or feeding difficulties, reducing acid helps protect the esophagus from damage and may improve comfort during feeds. According to FDA labeling, omeprazole is approved for gastroesophageal reflux disease (GERD) and erosive esophagitis in pediatric patients, and dosing is weight-based and limited in duration. Side effects can include headache, diarrhea, or low magnesium with long use. Doctors regularly review the need for ongoing therapy. FDA Access Data+2FDA Access Data+2
2. Loop diuretics (for heart failure-related fluid overload)
Medicines such as furosemide (Lasix) help the kidneys excrete extra salt and water. In children with cardiac defects causing heart failure, diuretics reduce lung congestion and swelling, making breathing easier and improving feeding tolerance. FDA labeling for furosemide includes use for edema in adults and pediatric patients with heart failure and other conditions; dosing is carefully adjusted and monitored. Possible side effects are dehydration, low blood pressure, and imbalance of salts like potassium and sodium, so blood tests and close follow-up are required. FDA Access Data+2FDA Access Data+2
3. ACE inhibitors (for some cardiac defects and heart failure)
Drugs such as enalapril relax blood vessels and reduce the workload of the heart by blocking the angiotensin-converting enzyme (ACE). In selected children with certain heart defects or heart failure, this can improve pumping efficiency and symptoms. FDA documents describe enalapril as indicated for hypertension and adult heart failure; pediatric use in heart disease requires specialist judgment and careful monitoring of kidney function and blood pressure. Side effects may include cough, low blood pressure, and changes in kidney tests. FDA Access Data+2FDA Access Data+2
4. Antibiotics for respiratory and ear infections
Children with choanal atresia, craniofacial anomalies, or cleft palate may develop frequent sinus, ear, or lung infections. Common antibiotics include amoxicillin or amoxicillin-clavulanate, chosen based on likely bacteria and local guidelines. FDA labeling for amoxicillin notes its use against many respiratory pathogens and its usual short-course dosing schedules. Overuse of antibiotics is avoided to prevent resistance; side effects can include diarrhea, rash, and, rarely, serious allergy. Parents are advised to complete the prescribed course and seek urgent help if breathing or general condition worsens. FDA Access Data+3FDA Access Data+3FDA Access Data+3
5. Analgesics and antipyretics (for pain and fever)
After surgeries (choanal repair, cardiac or craniofacial procedures) or during infections, medicines such as acetaminophen (paracetamol) are used to control pain and fever. These drugs improve comfort, help children sleep and eat better, and reduce stress on the heart and lungs. Doses are strictly weight-based, and caregivers are warned not to exceed the total daily maximum or combine multiple products containing the same drug. Side effects are rare at correct doses but overdose can harm the liver, so parents should only use amounts prescribed by the doctor. Medscape+1
6. Nasal steroid sprays (for post-surgical inflammation)
In some older children, ENT specialists may use low-dose nasal corticosteroid sprays to reduce inflammation and scar tissue in the nose after choanal atresia repair. This can help keep the surgically opened airway from narrowing again. These sprays act mainly locally with minimal systemic absorption when used correctly. Side effects can include minor nosebleeds or irritation. Because this is an off-label strategy in a very rare condition, its use is carefully weighed, and regular ENT follow-up is essential. PMC+2Dr. Sanu+2
7. Anti-reflux pro-motility or thickening agents
Some centers use feed thickeners or medicines that improve stomach emptying in babies with serious reflux and aspiration risk. These are chosen cautiously, since evidence in complex syndromes is limited and side effects can occur. Often, non-drug options such as feed positioning and thickened formulas are tried first, and medicines are added only if benefits clearly outweigh risks. PMC+2Medindia+2
8. Sedatives and anesthetic agents (short-term use for procedures)
Children with this syndrome often need repeated imaging, endoscopies, and surgeries. Short-acting sedatives and anesthetic drugs are used in the operating room or procedural suite to keep them safe and comfortable. These drugs are not long-term treatments; they are carefully dosed by anesthesiologists who monitor breathing, heart function, and recovery. Parents should always tell the anesthesia team about any heart, airway, or kidney problems before each procedure. Medscape+1
9. Cardiac rhythm or inotropic medicines (selected cases)
If the child develops heart rhythm problems or severe heart failure, cardiologists may use specialized drugs that support heart pumping or stabilize rhythm. Examples include inotropes during ICU care or rhythm-control drugs for arrhythmias. These are used in hospital under strict monitoring and are not routine for all children with this syndrome. PMC+1
10. Nutritional support formulas and supplements (prescribed products)
High-calorie or specialized formulas are sometimes prescribed to help children with poor growth or feeding difficulties. These may be enriched in calories, protein, or specific nutrients and are often given via bottle, cup, or feeding tube. Though they are nutrition products, they are treated like medical therapies and adjusted by dietitians and pediatricians. Side effects can include bloating or changes in stool, so formulas are introduced slowly and monitored. Cleveland Clinic+1
Important safety note: Exact drug choice, dose, and timing must always be decided by the child’s own doctors. Never start, change, or stop medicines without professional guidance.
Dietary Molecular Supplements
There are no supplements proven to cure this syndrome, but good nutrition supports growth, immune function, and recovery from surgery. Any supplement should be discussed with the child’s medical team to avoid interactions or overdose.
1. Vitamin D
Vitamin D helps the body absorb calcium and supports bone and immune health. Children with chronic illness, reduced sun exposure, or feeding problems are often at risk of deficiency. A pediatrician may recommend a daily vitamin D supplement with a dose based on age and lab tests. Too much vitamin D can cause high calcium and kidney problems, so parents should never give large over-the-counter doses without medical advice. National Organization for Rare Disorders+1
2. Calcium
Calcium is vital for strong bones and normal heart and muscle function. Children who avoid dairy or have feeding restrictions may not get enough from food. A dietitian may suggest calcium from foods such as milk, yogurt, fortified plant milks, or, if needed, a measured supplement. Balance with vitamin D is important, and excess supplementation can lead to constipation or kidney stones, so professional guidance is essential. National Organization for Rare Disorders+1
3. Iron
Iron supports red blood cell production and oxygen transport. Repeated surgeries, poor intake, or chronic illness can increase the risk of iron-deficiency anemia, which causes tiredness and poor growth. Doctors may prescribe an iron supplement if blood tests show low levels. It is usually given in small daily doses with food or juice to improve absorption. Side effects can include dark stools or mild tummy upset. Parents should keep iron out of reach of children because overdose is dangerous. National Organization for Rare Disorders+1
4. Omega-3 fatty acids
Omega-3 fats from fish oil or algae oil may support heart health and reduce inflammation in general, although they are not specific treatments for this syndrome. Supplements are sometimes considered when a child eats little fish and has cardiovascular risk. Doses must be tailored, as high amounts can increase bleeding risk, especially around surgery or when used with blood-thinning medicines. National Organization for Rare Disorders+1
5. Multivitamin tailored to medical needs
A pediatric multivitamin can help fill small gaps in daily nutrients, especially when appetite is poor or food choices are limited by cleft palate or feeding issues. Doctors usually prefer low-dose, age-appropriate products rather than “mega-dose” vitamins. The goal is to complement a healthy diet, not replace it. Parents should check labels and avoid duplicating ingredients from other supplements or fortified formulas. National Organization for Rare Disorders+1
(Other supplements such as zinc, selenium, or probiotics may be considered on a case-by-case basis, but high-quality evidence in this rare syndrome is limited. They should only be used under medical supervision.)
Regenerative, Immunity-Boosting, and Stem-Cell–Related Approaches
At present, there are no standard or FDA-approved “stem cell drugs” or regenerative medicines specifically for choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome. Research in stem cells is ongoing for heart defects, hearing loss, and craniofacial repair, but these studies are mostly in animals or early-phase human trials and are not routine clinical care. Families should be very cautious about clinics that advertise “stem cell cures” for congenital syndromes without strong scientific proof. PMC+2Frontiers+2
The best way to support the immune system and regeneration today is still standard evidence-based care: complete vaccination schedules, good nutrition, treatment of infections, safe surgery when indicated, and ongoing rehabilitation. Experimental therapies should only be considered inside approved clinical trials at recognized academic centers, after detailed discussion with the genetics and specialty teams. National Organization for Rare Disorders+1
Surgical Treatments
1. Endoscopic repair of choanal atresia
This is the key surgery for opening the blocked back of the nose. ENT surgeons use small cameras and instruments through the nostrils (endoscopic approach) to remove the bony or membranous wall that blocks airflow. The aim is to create a stable, wide passage from nose to throat while avoiding damage to nearby structures. Sometimes, temporary stents are placed to keep the new opening from closing again. The procedure is usually done early in life for bilateral atresia to secure breathing, with later revisions if needed. PMC+2Medscape+2
2. Surgical repair of cardiac defects
Cardiac surgeons plan operations based on the exact heart defect, such as closing septal holes or correcting valve or vessel anomalies. These surgeries improve blood flow and reduce symptoms like fast breathing, poor feeding, and poor growth. Timing depends on how severe the defect is and the baby’s overall condition. After surgery, children need cardiology follow-up for many years to monitor heart function, possible rhythm problems, and exercise tolerance. PMC+1
3. Cleft lip and/or palate repair
If the child has a cleft lip or palate, plastic and ENT surgeons repair these openings in stages. Lip repair is often done in the first few months of life, and palate repair is usually done later in infancy or early childhood. These operations help with feeding, speech development, and appearance. They often need follow-up procedures to fine-tune speech and facial balance as the child grows. ClinGen+1
4. Craniofacial reconstructive procedures
Some children will need surgeries to adjust eyelids, nose, jaw, or other facial bones. These procedures can improve eye protection, nasal airflow, chewing, and cosmetic appearance. Craniofacial surgeons plan these operations carefully with imaging and growth predictions. The goal is to balance function and appearance while minimizing the number of surgeries. Orpha+1
5. Cochlear implantation or middle-ear surgery
When hearing loss is severe and not adequately helped by conventional hearing aids, cochlear implants may be considered. These devices convert sound into electrical signals that directly stimulate the hearing nerve. ENT surgeons place the implant under the skin and into the inner ear, and audiologists later program it. Middle-ear surgeries, such as putting in ventilation tubes, may also be required to treat chronic ear fluid and infections. ClinGen+1
Prevention and Risk Reduction
Because this syndrome is genetic and very rare, it cannot be fully prevented. However, several steps can reduce complications and support the child’s health:
Genetic counseling before future pregnancies – Parents with one affected child can discuss recurrence risk and options such as prenatal testing with a genetics team. TogoVar+1
Early newborn screening and assessment – Prompt evaluation of breathing, heart, hearing, and feeding in the newborn period allows early interventions that can prevent emergencies and failure to thrive. PMC+1
Keeping vaccinations up to date – Routine immunizations help protect against serious infections that would be more dangerous because of heart or airway problems. National Organization for Rare Disorders+1
Avoiding tobacco smoke and indoor air pollution – Smoke irritates the airways and increases infections; a smoke-free home is especially important. National Organization for Rare Disorders
Good hand hygiene and infection control – Regular handwashing and avoiding sick contacts when possible reduce respiratory infections. National Organization for Rare Disorders
Regular dental and oral care – Dental infections can spread and worsen heart and airway problems, so regular dental checks and cleaning are important. National Organization for Rare Disorders
Healthy growth monitoring – Frequent weight and height checks help detect feeding or heart problems early, allowing prompt adjustments in nutrition or treatment. Cleveland Clinic+1
Safe feeding practices – Using recommended bottles, textures, and positions reduces aspiration and pneumonia risk. PMC+1
Regular follow-up with specialists – Keeping appointments with ENT, cardiology, audiology, and craniofacial teams helps catch problems before they become emergencies. PMC+1
Early referral to early-intervention programs – Prompt access to therapy services supports better long-term developmental outcomes. Cleveland Clinic+1
When to See a Doctor
Parents and caregivers should seek medical help urgently if:
The baby or child has noisy breathing, pauses in breathing, blue lips or skin, or seems to struggle to breathe.
Feeding is very slow, there is choking or coughing with feeds, or the child fails to gain weight.
There are signs of heart problems, such as fast breathing, sweatiness with feeding, puffy legs or eyes, or extreme tiredness.
Fever, cough, ear pain, or nasal discharge are severe, frequent, or not improving with treatment.
Hearing seems to worsen, or the child does not respond to voices or sounds as before.
There are changes in behavior, such as unusual sleepiness, irritability, or sudden decline in activity.
Regular, non-urgent visits are also important for routine follow-up, lab checks, hearing tests, and therapy planning, even when the child seems well. PMC+2StatPearls+2
What to Eat and What to Avoid
Food plans must be individualized by dietitians, but some general points can help.
Foods generally helpful (as approved by the care team):
Soft, easy-to-chew foods like purees, mashed vegetables, yogurt, and soft fruits, especially after palate or craniofacial surgery.
Energy-dense foods such as nut butters (when age-appropriate), avocado, and fortified formulas to support growth in children with high energy needs.
Iron-rich foods including lean meats, beans, lentils, and iron-fortified cereals to support blood health.
Calcium- and vitamin D–rich foods like milk, yogurt, cheese, or fortified plant milks to support bones and teeth.
High-fiber fruits and vegetables to prevent constipation, which can worsen discomfort and feeding. Cleveland Clinic+1
Foods and habits often discouraged (unless doctors advise otherwise):
Very salty foods (chips, processed meats, instant noodles) in children with heart failure, because excess salt worsens fluid retention.
Sugary drinks and sweets in large amounts, which harm teeth and can reduce appetite for nutritious foods.
Hard, sticky, or choking-risk foods (whole nuts, hard candies) in young children or those with swallowing problems.
Unpasteurized milk or raw animal products, which carry higher infection risk.
Caffeine-containing drinks (energy drinks, strong tea or coffee) in older children, especially with heart or rhythm problems. National Organization for Rare Disorders+1
Frequently Asked Questions (FAQs)
1. Is this syndrome the same as CHARGE syndrome?
No. This condition overlaps with CHARGE syndrome (both can have choanal atresia, heart defects, and ear anomalies), but it is genetically and clinically distinct in most cases. Burn-McKeown syndrome is strongly linked to TXNL4A variants and has a characteristic pattern of facial features and bilateral choanal atresia. Genetic testing and expert evaluation are needed to separate these diagnoses. ClinGen+2TogoVar+2
2. Will my child’s intelligence be normal?
Most reports suggest that many people with Burn-McKeown syndrome have normal intellectual development, especially when they receive early hearing, speech, and educational support. However, each child is unique, and factors like prematurity, heart problems, or repeated hospitalizations can affect learning. Regular developmental assessments help identify and address any delays early. MalaCards+1
3. Can the breathing problem from choanal atresia be completely fixed?
Surgery can open the blocked nasal passages and significantly improve breathing, but some children need repeat surgeries or procedures because scar tissue can form and narrow the airway again. Long-term ENT follow-up, careful nasal care, and monitoring are vital. Many children eventually breathe comfortably through the nose after appropriate treatment. PMC+2Medscape+2
4. Will my child always need a feeding tube?
Some babies need tube feeding early in life when breathing and coordination are still unstable. As choanal atresia is repaired, clefts are fixed, and therapies progress, many children move to oral feeding over time. The decision to remove a feeding tube is based on swallowing safety, growth, and the child’s skills. Feeding therapists, ENT surgeons, and dietitians guide this transition. PMC+2Medindia+2
5. Can hearing loss be cured?
Hearing loss due to inner-ear or nerve damage cannot usually be “cured,” but hearing aids and cochlear implants can provide excellent access to sound. Early fitting and consistent use, along with speech therapy, give the best chance for clear speech and normal communication. Many children with this syndrome can attend mainstream school with proper hearing support. ClinGen+2National Organization for Rare Disorders+2
6. Is this syndrome life-threatening?
The risk depends on how severe the heart defects, airway problems, and other anomalies are. Some babies are very sick in the newborn period and need intensive care and early surgeries. With successful treatment of the heart and airway, many children survive and grow into adulthood. Ongoing follow-up is important to manage late complications. PMC+2PMC+2
7. Can future pregnancies be tested for this condition?
If a TXNL4A variant or other specific genetic cause has been confirmed in the family, prenatal testing or pre-implantation genetic testing may be possible. A clinical geneticist or genetic counselor can explain options, risks, and limitations. For many families, testing helps with planning but does not change the fact that the condition is rare and usually sporadic. TogoVar+1
8. Will my child look very different from other children?
Children with this syndrome have special facial features, such as a high nose bridge, narrow eye openings, and sometimes eyelid or lip anomalies. Craniofacial and plastic surgeons can plan surgeries to improve function and appearance over time. Good family support, inclusive schooling, and counseling help children build strong self-esteem and social skills. Orpha+1
9. Are there special schools for children with this syndrome?
Many children can attend mainstream schools with appropriate supports, such as hearing devices, classroom FM systems, and individual education plans. Some may benefit from special classes or schools with expertise in hearing or multiple disabilities. The best choice depends on the child’s needs, local resources, and family preferences. Cleveland Clinic+1
10. Can my child play sports?
Activity is usually encouraged once heart and airway are stable. The cardiologist will advise which sports are safe and whether there should be limits on intense exercise. For many children, walking, swimming, and non-contact sports are possible and beneficial. Any new symptoms like chest pain, dizziness, or unusual shortness of breath should be reported immediately. PMC+1
11. Does my child need lifelong medical care?
Yes. Because this syndrome affects several organs, lifelong follow-up with ENT, cardiology, audiology, craniofacial, and primary care teams is recommended. The intensity of visits may decrease as the child becomes stable, but regular check-ups help detect late issues and support adult transition care. PMC+1
12. Are there patient support groups?
Support groups for rare craniofacial and CHARGE-like conditions, as well as heart and hearing organizations, offer information and emotional support. They connect families with others who face similar challenges, share practical tips, and sometimes provide educational materials in simple language. Your medical team or national rare-disease organizations can suggest reliable groups. National Organization for Rare Disorders+1
13. What should I tell caregivers and teachers?
Caregivers and teachers need simple, clear information about the child’s breathing, heart condition, hearing needs, and any feeding or activity restrictions. Providing a written care plan, emergency instructions, and contact details for the medical team helps keep the child safe. It is also helpful to explain any visible differences so peers understand and treat the child kindly. Cleveland Clinic+1
14. Will my child be able to live independently as an adult?
Many people with this syndrome can achieve a good level of independence, especially if intellectual development is normal and they receive early support with hearing, speech, and education. Some may always need help with medical management or complex decision-making. Planning for adult services, employment, and social support should begin in the teenage years. MalaCards+1
15. What is the single most important thing I can do as a parent?
The most important step is to build a strong partnership with a multidisciplinary team and keep follow-up appointments. Learning about the condition, supporting therapies at home, protecting your child from infection, and advocating for their needs at school all make a powerful difference. Remember that while the diagnosis is rare and complex, your child is more than the syndrome and can still enjoy many aspects of a full and meaningful life. National Organization for Rare Disorders+1
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.
