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Symbrachydactyly of hands and feet

Disease definition

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.

ORPHA:1570

Classification level: Disorder
  • Synonym(s):
    • De Smet-Fabry-Fryns syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q73.8
  • OMIM: -
  • UMLS: C2931719
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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