Burn-McKeown syndrome

Orpha code: 1200OMIM code: 616462

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl