choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (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. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
BMKS
related
Burn-McKeown syndrome
exact
bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance
related
choanal atresia deafness cardiac defects dysmorphism
related
oculootofacial dysplasia
exact
SPCC16A11.05c