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Синдром дисморфізму-кондуктивної приглухуватості-серцевих вад

ORPHA:289553· ICD-10 Q87.8· Dysmorphism-conductive hearing loss-heart defect syndrome

Визначення(English summary)

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.

Поширеність
Unknown
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal