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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.


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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