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Acrodysostosis

Disease definition

An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ORPHA:950

Classification level: Disorder
  • Synonym(s):
    • Acrodysplasia
    • Arkless-Graham syndrome
    • Maroteaux-Malamut syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q75.4
  • OMIM: 101800  614613
  • UMLS: C0220659
  • MeSH: C538179
  • GARD: 5724
  • MedDRA: -
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