Acrodysplasia scoliosis

Orpha code: 2956OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Brachydactyly-scoliosis-carpal fusion syndrome
Brachydaktylia - skolioza - fuzja kości nadgarstka
Dysplazja kończyn - skolioza
Prata-Liberal-Goncalves syndrome
Kod ORPHA
2956
Kod OMIM
-
Kod ICD10
Q87.5
Kod ICD11
-

No additional description.

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