Acrodysplasia scoliosis

Orpha code: 2956OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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