Burn-McKeown syndrome

Orpha code: 1200OMIM code: 616462

Definition

A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.

Disease data
Classification

Malformation syndrome

Synonyms
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Zespół Burna i McKeowna
ORPHA code
1200
OMIM code
616462
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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