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ORPHA:2863· ICD-10 Q87.1· Short stature-wormian bones-dextrocardia syndrome

Визначення(English summary)

A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).

Поширеність
<1 / 1 000 000
Вік початку
Infancy, Neonatal