Dysmorphism-conductive hearing loss-heart defect syndrome

Orpha code: 289553OMIM code: 615102

Definicja

Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
289553
Kod OMIM
615102
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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