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Синдром розщілини піднебіння - низькорослості-аномалії хребта

ORPHA:2015· ICD-10 Q87.0· Cleft palate-short stature-vertebral anomalies syndrome

Визначення(English summary)

A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.

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