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Brachydactyly type C

Disease definition

A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.

ORPHA:93384

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q73.8
  • OMIM: 113100
  • UMLS: C1300268  C1862103
  • MeSH: C537093
  • GARD: 986
  • MedDRA: -

Detailed information

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