Burn-McKeown syndrome is a very rare genetic condition present from birth. Children with this syndrome usually have blocked or very narrow back parts of the nose (choanal atresia or stenosis). Because a newborn mainly breathes through the nose, this blockage can cause serious breathing trouble and may need urgent surgery. Many children also have special facial features such as small eye openings, a gap in the lower eyelids, a short groove between the nose and upper lip, a small mouth, and large ears. Hearing loss and heart defects (especially patent ductus arteriosus, PDA) can also happen, but intelligence is usually normal.
Burn-McKeown syndrome is usually caused by changes (mutations) in a gene called TXNL4A. This gene helps a cell machine called the “spliceosome,” which edits genetic messages (mRNA). When TXNL4A does not work well, some of these messages are not cut correctly, and this disturbs normal development of the face, nose, ears, and heart before birth.
Burn-McKeown syndrome (often shortened to BMKS) is a rare condition present from birth. It mainly affects the back of the nose (the air passages), the shape of the face, the ears and hearing, and sometimes the heart and growth. Many babies have both back-nose openings narrowed or blocked (called choanal stenosis/atresia), which can cause serious breathing trouble, especially in early life.
BMKS usually happens because a child is born with two changed copies of a gene called TXNL4A (one from each parent). This gene helps the body “edit” messages (mRNA) that cells use to make proteins. When TXNL4A does not work well, the body makes less of a spliceosome part, and this can disturb early development of the face and airways.
Other names
BMKS has also been described with a longer name based on key features, such as “choanal atresia–hearing loss–cardiac defects–dysmorphism syndrome.” In older reports, a closely related label oculootofacial dysplasia (OOFD) was later reclassified as Burn-McKeown syndrome after TXNL4A changes were found in affected families.
Types
BMKS is often discussed as part of a TXNL4A-related craniofacial disorder spectrum, rather than separate “types.” People can fall along this spectrum:
Classic Burn-McKeown syndrome (typical face features + choanal stenosis/atresia, often hearing loss, sometimes heart defect).
Choanal atresia/stenosis with minor anomalies (blocked/narrow back of the nose with fewer extra findings).
Isolated choanal atresia linked to TXNL4A (mainly the nasal blockage without many other signs).
Causes
Two disease-causing changes in TXNL4A (biallelic variants). BMKS is diagnosed when a child has the typical findings and testing shows two harmful TXNL4A variants.
A change inside the TXNL4A gene (coding variant). Some children have a mutation in the gene itself that damages how the gene works.
A change in the TXNL4A promoter region. Some children have changes not in the main gene code, but in the promoter (a control area) that lowers how much protein is made.
Type 1 “34-base-pair” promoter deletion. GeneReviews reports that many known patients have at least one copy of a 34-bp deletion in the TXNL4A promoter (type 1 is one of the described deletions).
Type 2 “34-base-pair” promoter deletion. Another partially overlapping 34-bp promoter deletion (type 2) has also been reported in TXNL4A-related cases.
Compound heterozygosity (two different variants). A common pattern is one promoter deletion on one copy and a different damaging variant on the other copy.
Homozygous promoter deletion (same deletion on both copies). Some people have two copies of the same promoter deletion, which can be linked to a milder end of the TXNL4A spectrum or to choanal atresia with fewer signs.
Splice-site variant in TXNL4A. A splice-site change can disrupt how mRNA is put together, and has been reported in BMKS families.
Frameshift variant in TXNL4A. A small insertion/deletion can “shift” the reading frame, often causing loss of normal function; such loss-of-function variants are reported with BMKS.
Nonsense (stop) variant in TXNL4A. A mutation can create an early stop signal so the protein becomes too short to work well (a known loss-of-function pattern in BMKS reports).
Small gene deletion (microdeletion) affecting TXNL4A. Some reported families have loss-of-function changes including small deletions that remove important parts of the gene.
Reduced TXNL4A protein production. MedlinePlus explains that BMKS mutations usually reduce the amount of TXNL4A protein made from the gene.
Problem building the major spliceosome. TXNL4A is part of the major spliceosome, and reduced TXNL4A can disturb spliceosome assembly.
Abnormal mRNA splicing (cell message processing). When splicing is affected, some mRNA messages may not be processed in the normal way during development.
Changes in a “subset” of mRNA messages. Research suggests TXNL4A reduction may change the production of a particular group of mRNAs, which may help explain why mainly certain body parts are affected.
Autosomal recessive inheritance. BMKS is usually autosomal recessive, meaning both gene copies must be changed for the child to be affected.
Both parents are healthy carriers. Most often, each parent has one changed copy and does not have the syndrome, but together they can have an affected child.
Consanguinity (parents related by blood). When parents are related, the chance of sharing the same rare gene change can be higher, so the risk can increase in some families.
Recurrence risk in siblings (25% when both parents are carriers). If both parents carry TXNL4A variants, each pregnancy has about a 1 in 4 chance to be affected.
Rare “new” (de novo) event in one parent’s eggs/sperm cells or mosaicism. GeneReviews notes that in rare situations, one variant may arise as a new change in the child or from a mosaic parent, while the other variant is inherited.
Symptoms and signs
Breathing trouble in newborns. If both back-nose passages are blocked, a baby may struggle to breathe, especially during feeding, because newborns often breathe through the nose.
Cyclic distress that improves with crying. Some babies breathe worse when quiet and better when crying (crying forces mouth breathing), which can happen in choanal atresia.
Noisy breathing (snorting/stridor). Narrow or blocked nasal passages can make breathing sound noisy.
Feeding difficulty. Babies may have trouble feeding because they cannot breathe well through the nose while sucking.
Poor weight gain / slow growth early. Breathing and feeding problems, plus some heart issues, can make weight gain harder in some infants.
Blocked or narrowed back of the nose (bilateral choanal stenosis/atresia). This is one of the key signs and is reported in essentially all described classic BMKS cases.
Short openings of the eyelids (short palpebral fissures). The eye openings can look narrow from inner to outer corner.
Lower eyelid gap (lower eyelid coloboma/defect). A small “notch” or missing piece can occur in the lower eyelid, which may lead to eye dryness if the eye surface is exposed.
Widely spaced eyes (hypertelorism). The eyes can be set farther apart than usual as part of the typical facial shape.
Prominent nasal bridge. The bridge of the nose may look higher or more noticeable.
Short philtrum and thin upper lip. The space between nose and upper lip can be short, and the upper lip edge can look thin.
Small mouth opening (microstomia). Some people have a smaller opening of the mouth, which can affect feeding and later dental care.
Ear shape differences (large/protruding ears, tags). Ears may be prominent or stick out, and small skin tags near the ear can happen.
Hearing loss (often mixed: conductive + sensorineural). Hearing loss is common and can involve both middle-ear and inner-ear parts.
Heart defect (for example PDA or other defects). Some children have congenital heart defects, including patent ductus arteriosus, and they may need a heart check.
Diagnostic tests
Physical exam
Full newborn and face exam. A doctor looks closely at the face, eyes, lips/palate, jaw, and ears to see if the pattern matches BMKS and to plan which specialists are needed.
Breathing and oxygen check (vitals). The care team checks breathing rate, chest effort, and oxygen level because blocked choanae can cause serious airway blockage in newborns.
Mouth and palate inspection. The clinician checks for cleft lip, cleft palate, or a submucous cleft (a cleft hidden under the lining), because these can occur in BMKS.
Heart exam (listening for murmur). A clinician listens for signs that may suggest a heart defect, then confirms with heart imaging if needed.
Manual / bedside tests
Nasal catheter “pass test.” In suspected choanal atresia, a small suction catheter is gently tried through the nostril; failure to pass into the back of the throat supports blockage.
Saline test. A few drops of saline are placed in the nose; if the fluid cannot pass to the throat because the back passage is blocked, this supports choanal atresia.
Cold spatula / mirror fog test. A cold metal surface is held under the nostrils; little or no fogging can suggest reduced nasal airflow in choanal atresia.
Flexible nasal endoscopy (direct look). A thin flexible camera can look inside the nose to directly see narrowing or blockage and guide next steps.
Lab and pathological tests
Molecular genetic testing for TXNL4A (sequencing). The diagnosis is established when testing finds two pathogenic TXNL4A variants in a person with suggestive findings.
Testing for TXNL4A promoter deletions. Many reported patients have a 34-bp promoter deletion, so labs often include methods that can detect these deletions.
Copy-number testing (to look for deletions/duplications). Some studies used methods such as MLPA or similar approaches to check for copy-number changes involving TXNL4A.
Targeted variant testing in parents (carrier testing). Testing parents helps confirm each parent carries one variant and supports accurate recurrence risk counseling.
Testing other relatives when a family variant is known. Once the family’s TXNL4A variants are known, relatives can be tested to see who is a carrier and who may be at risk.
Prenatal or preimplantation genetic testing (when requested). If the family variants are known, testing during pregnancy or with IVF embryos can be offered for families who want these options.
Electrodiagnostic tests
AABR (automated auditory brainstem response). This newborn hearing screen measures electrical responses in the hearing pathway and can help detect significant hearing loss early.
ABR (full diagnostic auditory brainstem response). If screening is abnormal, a full ABR test helps measure hearing levels more carefully and can guide early hearing support.
Tympanometry (middle-ear function test). This test checks how the eardrum moves and helps find middle-ear problems that can contribute to conductive hearing loss.
Imaging tests
CT scan of the nose/choanae. CT imaging is commonly used to confirm choanal atresia/stenosis and to show the exact structure before treatment.
Echocardiography (heart ultrasound). Because some children have heart defects (such as PDA), GeneReviews recommends a cardiology assessment including echocardiography.
Eye/eyelid assessment imaging when needed (ophthalmology). When lower eyelid defects are present, an eye specialist checks for corneal exposure problems and may use eye tools/imaging to protect vision.
Non-pharmacological treatments (therapies and other supports)
Below are key non-drug therapies commonly used in children with Burn-McKeown syndrome or similar TXNL4A-related craniofacial disorders.
Airway positioning and breathing support.
Right after birth, nurses and doctors may use special positions, suction, or temporary breathing devices (like a tube or mask) to help the baby breathe while they assess the blocked nose. The purpose is to keep oxygen levels safe until a more permanent solution (such as surgery) can be done. The mechanism is simple: opening the mouth airway, supporting the tongue and jaw, and using gentle oxygen or ventilation so air can bypass the blocked nasal passages.Feeding support and special bottles.
Babies with nose blockage or cleft lip/palate may struggle to suck and breathe at the same time. Special soft bottles, nipples, or feeding techniques help milk flow more easily so the baby does not work too hard. The goal is to keep nutrition and weight gain normal. The mechanism is mechanical help: easier milk flow, controlled pace, and sometimes upright positioning to reduce choking and tiredness.Speech and language therapy.
Hearing loss and cleft palate can delay speech. A speech-language therapist teaches the child how to make sounds correctly, use language, and communicate clearly. The purpose is better speech, school performance, and social interaction. The mechanism is regular, structured practice of sounds and words, plus exercises to improve how the lips, tongue, and palate move and how the child pays attention to sounds.Hearing rehabilitation (hearing aids / bone conduction devices).
Children with Burn-McKeown syndrome often have mixed hearing loss. Hearing aids, bone-conduction devices, or other assistive listening devices can make sounds louder and clearer. The purpose is to protect language, learning, and social skills. The mechanism is simple sound amplification or transmission of sound vibrations through the bone directly to the inner ear, bypassing some middle-ear problems.Ophthalmology care and eye protection.
Lower-eyelid gaps (coloboma) can leave the eye surface exposed and dry. Lubricating eye drops, gels, or moisture chambers and sometimes taping at night help protect the cornea. The purpose is to prevent scars and preserve vision. The mechanism is keeping the front of the eye moist and covered so it is less likely to be damaged by air, dust, and friction.Craniofacial and dental/orthodontic follow-up.
Craniofacial surgeons, dentists, and orthodontists monitor jaw growth, teeth alignment, and facial bones over many years. They may plan later braces, jaw surgery, or cosmetic procedures. The purpose is to improve chewing, speech, and appearance. The mechanism is staged treatment: monitoring growth, then using braces and surgery at the right ages to guide the face and jaws into better positions.Physiotherapy and developmental support.
Even though intelligence is usually normal, some children have mild motor delays or poor coordination due to repeated surgeries or hospital stays. Physiotherapists give exercises for strength, posture, and balance. The purpose is to help the child keep up physically with peers. The mechanism is repeated practice of movements that build muscle power, joint flexibility, and confidence in everyday tasks like walking, running, and playing.Psychological counseling and family support.
Visible facial differences, repeated hospital visits, and hearing problems can affect self-esteem and mood. Psychologists or social workers can help the child and family manage stress, bullying, and anxiety. The purpose is emotional well-being and social confidence. The mechanism is talking therapy, coping skills training, and support groups where children and parents can share experiences and feel less alone.Educational support and special accommodations.
Children with hearing loss may need classroom seating near the teacher, FM systems, captioning, or extra time for tasks. The goal is equal access to learning. The mechanism is reducing “noise” barriers by using technology and simple classroom changes so the child can clearly hear instructions and participate fully.Regular specialist surveillance.
Long-term follow-up with ENT, cardiology, ophthalmology, audiology, and craniofacial teams is essential. The purpose is to detect new problems early (such as progressive hearing loss or heart issues) and adjust treatment. The mechanism is planned check-ups, hearing tests, heart scans, and eye exams using standard clinical guidelines for TXNL4A-related craniofacial disorders.
Drug treatments
Very important: there are no medicines that “cure” Burn-McKeown syndrome itself. Drugs are used to manage infections, heart problems, pain, and allergy-type symptoms, especially around surgeries. The examples below come from common pediatric practice and FDA-approved labels for each medicine’s usual indications, not specifically for Burn-McKeown syndrome.
(All doses are only rough examples; real dosing must be set by the child’s own doctor.)
Amoxicillin – antibacterial drug.
Amoxicillin is a penicillin-class antibiotic used to treat ear, nose, throat, and lung infections, which can be common in children with abnormal ear and nose anatomy. Typical doses are based on body weight and given 2–3 times daily by mouth for 5–10 days, as directed on the label. It works by stopping bacteria from building their cell wall, so they burst and die. Common side effects include diarrhea, rash, and, rarely, allergic reactions.Amoxicillin–clavulanate (Augmentin) – broader antibacterial.
This combination adds clavulanate to protect amoxicillin from certain resistant bacteria. Doctors may choose it for more severe or mixed infections involving the ears, sinuses, or lungs, especially before or after ENT surgery. It is usually given by mouth every 8–12 hours with food. It works by killing bacteria while the clavulanate blocks bacterial enzymes (beta-lactamases). Side effects include stomach upset, diarrhea, and risk of liver irritation in rare cases.Ceftriaxone – injectable antibiotic.
Ceftriaxone is a third-generation cephalosporin used for serious infections when oral drugs are not enough or cannot be taken. Doctors may give it in the hospital by vein or muscle once daily based on weight. It blocks bacterial cell wall synthesis, similar to penicillins but with a broader spectrum. Side effects can include pain at the injection site, diarrhea, and rare allergic reactions or gallbladder sludge.Furosemide (Lasix) – diuretic for certain heart defects.
Some children with Burn-McKeown syndrome have heart problems like PDA that may cause fluid overload or heart failure signs. Furosemide increases urine output by acting on the kidney’s loop of Henle, helping remove extra salt and water. Typical pediatric doses are around 1 mg per kg, adjusted by the doctor and given by mouth or injection. Purpose is to reduce swelling, breathing difficulty, and heart strain. Side effects include dehydration, low blood pressure, and low potassium.ACE inhibitors (for example, enalapril) – heart support.
In children with significant heart defects, ACE inhibitors can lower blood pressure and reduce the workload of the heart. Doses are based on weight and started very low, then slowly increased. They work by blocking the renin–angiotensin system, relaxing blood vessels and helping the heart pump more easily. Side effects may include cough, low blood pressure, and changes in kidney function or potassium levels, so blood tests are required.Paracetamol (acetaminophen) – pain and fever control.
Children with Burn-McKeown syndrome often have repeated surgeries (nose, eyelid, lip, heart), and paracetamol is widely used for pain and fever afterwards. Dosing is weight-based and spaced at least 4–6 hours apart, with a daily maximum set by the doctor. It works in the brain to reduce pain signals and fever. Side effects are usually mild, but high or repeated overdoses can harm the liver, so careful dosing is important.Ibuprofen – anti-inflammatory pain reliever.
Ibuprofen is a non-steroidal anti-inflammatory drug (NSAID) used for pain and swelling after surgery or with ear infections. It blocks COX enzymes and prostaglandin production, reducing pain and inflammation. Children receive weight-based doses every 6–8 hours with food. Side effects may include stomach upset, risk of kidney strain if dehydrated, and, rarely, bleeding problems. Doctors avoid it in some heart or kidney conditions.Intranasal corticosteroids (for example, fluticasone nasal spray).
After choanal atresia repair or in allergic rhinitis, nasal steroid sprays can reduce swelling and keep nasal passages open. The spray is usually used once or twice daily into each nostril as directed. It works locally by blocking inflammatory chemicals in the nasal lining. Side effects may include mild nose irritation, nosebleeds, and, rarely, nasal ulcers or fungal infection with long-term overuse.Proton-pump inhibitors (PPIs, for example, omeprazole).
Babies with difficult feeding, reflux, or frequent vomiting may be given PPIs to reduce stomach acid and protect the esophagus. Omeprazole is usually given once daily before food in a dose based on weight and limited to the shortest effective time. It works by blocking the acid pump in stomach cells. Side effects include headache, stomach upset, and, with long use, possible changes in mineral absorption or infection risk.Short-term sedatives and anesthetics (hospital-only).
During airway procedures (like choanal repair) or heart surgery, anesthetic drugs help the child sleep and feel no pain. In intensive care, short-acting sedatives may keep the child comfortable and safe on a breathing machine. Doses and choices are completely controlled by specialists. These drugs act on brain receptors to reduce awareness and pain. Side effects can include low blood pressure or breathing suppression, so they are only used in monitored hospital settings.
(Because there are no drugs approved specifically “for Burn-McKeown syndrome,” the list focuses on common supportive medicines. Evidence for each drug’s safety and indications comes from official FDA labels, not from this rare syndrome itself.)
Dietary molecular supplements
There is no supplement proven to treat Burn-McKeown syndrome directly. However, good nutrition helps growth, wound healing, and immune function, especially around surgeries. Below are general examples often discussed in pediatric nutrition; any supplement should be approved by the child’s doctor.
Balanced multivitamin and mineral support.
A pediatric multivitamin can help cover small gaps in diet, especially in children who eat poorly due to feeding problems or repeated operations. It usually contains vitamins A, C, D, E, B-complex, and minerals like zinc and iron in age-appropriate doses. The purpose is to support normal growth, immune function, and wound healing. The mechanism is simple replacement: giving the body the micronutrients it needs as co-factors for many enzymes and tissue-repair processes.Vitamin D with calcium.
Adequate vitamin D and calcium support bone and tooth development, which is important in children with craniofacial differences and possible jaw or palate surgery. Doses are usually small daily drops or tablets based on age and blood levels. Vitamin D helps the gut absorb calcium and supports bone mineralization, while calcium is a major building block of bone and teeth. Too much can cause high calcium levels, so monitoring is needed.Omega-3 fatty acids (fish-oil or algae-based).
Omega-3 supplements may help general heart and brain health and reduce inflammation slightly. Low doses may be used in children who eat very little fish, under medical advice. Omega-3 fats are incorporated into cell membranes and can modulate inflammatory pathways and blood-vessel function. Possible side effects include mild stomach upset or a fishy aftertaste; very high doses can increase bleeding risk.Iron, if deficiency is present.
Some children with repeated surgeries or poor intake may become anemic. If blood tests show iron deficiency, iron drops or syrups can be given in a dose calculated per kilogram. Iron is needed for hemoglobin, which carries oxygen, and for many enzymes. It is best absorbed with vitamin C and on an empty stomach, but this can cause nausea or constipation. Over-supplementation is dangerous, so doses must be carefully controlled.Zinc.
Zinc supports wound healing, immune defense, and taste and appetite. Doctors may suggest a short course of zinc if the child has poor wound healing, recurrent infections, or low zinc levels. Zinc works by acting as a co-factor for many enzymes involved in DNA replication, cell division, and immune cell function. Side effects of too much zinc can include nausea, vomiting, and low copper levels.Probiotics (in selected cases).
If antibiotics are used often, the gut microbiome can be disturbed, leading to diarrhea. Some pediatricians recommend probiotic products that contain specific bacteria strains to help restore healthy gut flora. They work by competing with harmful bacteria and supporting a balanced gut environment. Effects differ between products, and evidence is still growing, so probiotics should be chosen carefully and used under medical advice.
Immunity-booster, regenerative and stem-cell drugs
At present, there are no approved “immunity booster” or stem-cell drugs specifically for Burn-McKeown syndrome. Research into regenerative and gene-based therapies for craniofacial “spliceosome” disorders (including TXNL4A-related conditions) is ongoing in animal and cell models, but these treatments are experimental and not available as routine care.
Support for the immune system mainly comes from standard childhood vaccinations, good nutrition, and prompt treatment of infections, not from special “immune drugs.” Stem-cell transplantation is not a standard treatment for Burn-McKeown syndrome, because the main problems are structural (nose, face, heart) and are usually addressed by surgery and supportive care.
Surgeries (procedures and why they are done)
Choanal atresia repair.
This is the key surgery for Burn-McKeown syndrome. Surgeons open the blocked back part of the nose using instruments or small scopes inserted through the nose or mouth. Sometimes they place stents (small tubes) to keep the new passage open. The purpose is to allow the baby to breathe normally through the nose and to prevent life-threatening breathing problems.Tracheostomy (in severe airway emergencies).
If the airway is very difficult to keep open or surgery cannot be done safely right away, doctors may make a surgical opening in the front of the neck into the windpipe and place a tube there. This tracheostomy allows air to go directly into the lungs. It is usually temporary, giving time for growth or further surgeries. The purpose is to secure breathing when nose and mouth airways are not enough.Cleft lip and/or palate repair.
If the child has a split upper lip or a cleft palate, plastic and maxillofacial surgeons repair these in one or more staged operations. The purpose is to improve feeding, speech, and appearance. The mechanism is surgical closure of the lip and palate tissues, usually following standard cleft-care protocols used for many syndromes.Eyelid coloboma repair.
Lower-eyelid gaps can be closed by eyelid reconstruction surgery. Surgeons move nearby skin and muscle to cover the defect, protect the eye, and create a smoother eyelid edge. The purpose is to prevent corneal exposure, dryness, and scarring, and to improve appearance. Timing depends on severity and eye-surface risk.Heart defect surgery (for example, PDA closure).
If the child has a significant heart defect like a large PDA, heart surgeons may close it using a catheter device or open surgery, depending on size and anatomy. The purpose is to stop extra blood flow to the lungs and prevent heart failure, poor weight gain, and long-term lung damage. After repair, many children can grow and exercise more normally.
Preventions
Because Burn-McKeown syndrome is a genetic condition, we cannot fully prevent it, but we can try to prevent complications and future cases in a family.
Genetic counseling for parents.
Families with a child with Burn-McKeown syndrome can meet a genetic counselor to discuss inheritance (autosomal recessive), chances in future pregnancies, and options like carrier testing or prenatal diagnosis.Early prenatal and newborn screening in future pregnancies.
In later pregnancies, detailed ultrasound and newborn assessment can look for nose blockage and craniofacial signs so treatment can be planned early.Standard vaccinations.
Keeping all routine vaccines up to date helps prevent infections that could be more serious in children with heart disease or repeated surgeries.Prompt treatment of respiratory infections.
Early medical review for cough, wheeze, or breathing trouble helps prevent infections from worsening, especially in children with narrow airways.Good oral and dental care.
Regular brushing, fluoride, and dental visits reduce the risk of tooth decay and infections around the face and jaw, which may already be structurally fragile.Healthy nutrition and growth monitoring.
Following growth charts and adjusting feeds or adding supplements early can prevent undernutrition and growth failure.Protection from second-hand smoke.
Avoiding cigarette smoke at home protects delicate airways and reduces respiratory infections and healing problems.Safe sleep and positioning for infants.
Parents are taught safe sleeping positions and signs of breathing difficulty, reducing risk during sleep.Regular hearing checks.
Testing hearing on a schedule allows early detection of changes so hearing aids or other supports can be adjusted quickly.Psychosocial support to prevent bullying and isolation.
Schools and families can work together to prevent bullying and support inclusion, reducing later mental health problems.
What to eat and what to avoid
Food cannot change the gene problem, but a smart diet supports growth, healing, and general health. Always follow advice from the child’s own doctor or dietitian.
Eat: soft, energy-dense foods; Avoid: very hard or crumbly foods early on.
After lip or palate surgery, soft mashed foods, yogurt, and smoothies are easier and safer. Hard foods like nuts or chips can hurt healing areas or cause choking.Eat: lean proteins (fish, chicken, eggs, beans); Avoid: very fatty, deep-fried foods.
Protein helps build tissue and heal surgical wounds. Very greasy food may cause stomach upset and poor appetite.Eat: fruits and vegetables of many colors; Avoid: sugary drinks and sweets.
Colorful produce gives vitamins and antioxidants that support healing and immunity. Too much sugar adds calories without nutrients and increases tooth decay risk.Eat: whole grains (oats, brown rice, whole-wheat bread); Avoid: highly processed snacks.
Whole grains give lasting energy and fiber. Packaged snacks are often high in salt, sugar, and unhealthy fats.Drink: plenty of clean water; Avoid: sugary sodas and energy drinks.
Water supports all body functions and helps keep mucus thin. Sugary drinks can worsen dental problems and weight issues.Eat: dairy or fortified alternatives (milk, yogurt, cheese); Avoid: very salty processed cheese.
These foods provide calcium and protein for bones and teeth. Very salty products can add too much sodium, not helpful for children with heart concerns.Eat: small, frequent meals if tired easily; Avoid: forcing large meals.
Children with breathing or feeding difficulties may eat better with smaller portions more often. Forcing big meals can cause vomiting and stress.Eat: doctor-approved supplements if needed; Avoid: random herbal or “miracle” products.
Use only supplements checked by doctors. Unregulated herbal mix products can interact with medicines or cause unexpected side effects.Eat: iron-rich foods (meat, lentils, leafy greens) if anemia is a risk; Avoid: tea or coffee with meals.
Iron-rich foods help prevent anemia. Tea and coffee can reduce iron absorption and should be limited, especially with meals.Eat: foods the child enjoys within healthy limits; Avoid: overly restrictive diets without medical reason.
Eating should stay as positive as possible. Unnecessary diet rules can cause poor intake and stress unless a doctor has ordered them.
When to see doctors
You should seek urgent medical help (emergency) if:
The baby or child has trouble breathing, noisy breathing, blue lips, or pauses in breathing.
There is severe feeding difficulty, repeated choking, or signs of dehydration (very few wet nappies, dry mouth, extreme sleepiness).
There is sudden worsening of heart symptoms, such as very fast breathing, sweating with feeds, or swelling of legs or tummy.
You should see the regular doctor or specialist soon if:
You notice new or worse hearing problems, like not responding to sounds or speech regression.
You see eye redness, pain, or light sensitivity, especially with known eyelid problems.
Surgical wounds become red, hot, painful, or leaking pus.
School or teachers report problems with speech, learning, or behaviour that may be linked to hearing loss or low confidence.
Regular planned follow-ups with ENT, cardiology, ophthalmology, audiology, craniofacial surgery, and genetics are also very important, even if the child seems well.
FAQs
Is Burn-McKeown syndrome life-threatening?
It can be life-threatening at birth because of nose blockage and possible heart problems. With prompt airway surgery, heart care, and long-term follow-up, many children survive and can live into adulthood, often with normal intelligence.Is intelligence affected?
Most reports describe normal intellectual development, although hearing loss and long hospital stays can affect school progress if supports are not provided. Early hearing and educational support reduce this risk.What causes Burn-McKeown syndrome?
It is caused by changes in both copies of the TXNL4A gene, which affects how cells process RNA messages in a part of development related to the face and skull. This is called an autosomal recessive condition.Can parents pass it to more children?
Yes. If both parents carry one changed TXNL4A gene, each pregnancy has a 25% chance of the baby having the syndrome. Genetic counseling can help explain this and discuss testing options.How is the diagnosis confirmed?
Doctors look at the physical signs (choanal atresia, special facial features, hearing loss) and then confirm with genetic testing that finds a TXNL4A variant.Is there a cure?
There is no cure that changes the gene. Treatment is “symptom-based”: airway surgery, hearing devices, heart care, and supportive therapies. Research is exploring gene and stem-cell approaches, but these are not yet available as routine treatments.Will my child need many surgeries?
Many children will need at least one surgery for the nose blockage and possibly cleft lip/palate, eyelids, or heart. The exact number depends on how severe each feature is. Surgeons try to time operations to balance safety, growth, and recovery.What is the long-term outlook (prognosis)?
Data are limited because the syndrome is very rare. Case reports suggest that with good treatment, many people grow to adulthood with normal thinking ability, but may have ongoing hearing, cosmetic, and sometimes heart issues that need monitoring.How common is Burn-McKeown syndrome?
It is extremely rare, with fewer than one in a million people affected. Only a small number of individuals are described in the medical literature worldwide.Is Burn-McKeown syndrome related to branchio-oculo-facial syndrome?
Both conditions affect the face and neck and involve craniofacial development, but they are different disorders with different genes (TXNL4A for Burn-McKeown; TFAP2A for branchio-oculo-facial syndrome). Their treatment principles are similar (multidisciplinary, structural repair), but they are not the same disease.Can a child with Burn-McKeown syndrome go to a regular school?
Many can attend mainstream school, especially if hearing loss and speech problems are well managed and teachers give reasonable accommodations (front-row seating, FM systems, extra time). Individual education plans may be helpful.Does this syndrome affect life span?
Life span may be reduced if serious airway or heart problems are not treated. When these are corrected and complications are managed, some patients likely have a near-normal life span, although long-term data are limited because the syndrome is so rare.Can hearing get worse over time?
Hearing problems can change over time, especially if there are middle-ear fluid issues or repeated infections. Regular hearing tests and careful ENT follow-up allow early treatment and adjustment of hearing devices.What specialists should follow my child?
Typical teams include ENT surgeons, craniofacial/plastic surgeons, cardiologists, audiologists, speech-language therapists, ophthalmologists, dentists/orthodontists, and genetic counselors. Coordinated care makes treatment safer and more effective.What can parents do day-to-day to help?
Parents can keep appointments, follow treatment plans, protect their child from infections, support hearing and speech practice at home, and encourage positive self-image. Joining support groups for craniofacial conditions can also help families feel informed and supported.
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.
