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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  C2931790
  • MeSH: C538180  C538277
  • GARD: 491
  • MedDRA: -
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