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Acrodysplasia scoliosis
Disease 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.
ORPHA:2956
Classification level: Disorder- Synonym(s):
- Brachydactyly-scoliosis-carpal fusion syndrome
- Prata-Liberal-Goncalves syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Neonatal
- ICD-10: Q87.5
- OMIM: -
- UMLS: C2931761
- MeSH: C538180 C538277
- GARD: 491
- MedDRA: -
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