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Fibular aplasia-complex brachydactyly syndrome

Disease definition

Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

ORPHA:2639

  • Synonym(s):
    • Du Pan syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q73.8
  • OMIM: 228900
  • UMLS: C1856738
  • MeSH: -
  • GARD: 2329  9879
  • MedDRA: -
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