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Синдром Чар

ORPHA:46627· ICD-10 Q87.8· Char syndrome

Визначення(English summary)

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Antenatal, Infancy, Neonatal