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Congenital absence/hypoplasia of fingers excluding thumb, unilateral

Disease definition

Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.

ORPHA:973

  • Synonym(s):
    • Adactyly of hand, unilateral
    • Digits 2-5 hypodactyly, unilateral
    • Digits 2-5 oligodactyly, unilateral
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q71.3
  • OMIM: 102650
  • UMLS: -
  • MeSH: -
  • GARD: 377
  • MedDRA: -

Detailed information

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