Living with Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
A condition present at birth, also called Burn-McKeown syndrome, that affects the nose passages, face, hearing, and heart.
Understanding Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Both nasal passages are usually narrowed or blocked, which can cause serious breathing problems in infancy unless repaired by surgery. People may have distinct facial features, hearing loss in both ears, mild short stature, and heart defects such as patent ductus arteriosus (PDA). GARD says intelligence is not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blocked rear openings of both nasal passages (choanal atresia)
- Heart wall (septum) differences
- Wide-set eyes (hypertelorism)
- Short openings between the eyelids
- Prominent bridge of the nose
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in TXNL4A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the TXNL4A gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: bmks; branchio oculo facial syndrome hing type; burn mckeown syndrome; burn-mckeown syndrome; choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome; oculootofacial dysplasia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome.
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