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Brachydactyly type C

Disease definition

Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.

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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