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Акродисплазійний сколіоз

ORPHA:2956· ICD-10 Q87.5· Acrodysplasia scoliosis

Визначення(English summary)

A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.

Поширеність
<1 / 1 000 000
Вік початку
Neonatal