Orphanet: Isolated split hand split foot malformation
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Isolated split hand-split foot malformation

Disease definition

A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.

ORPHA:2440

Classification level: Disorder
  • Synonym(s):
    • Ectrodactyly
    • SHFM
    • Split hand foot malformation
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q71.6  Q72.7
  • OMIM: 183600  225300  246560  313350  605289  606708
  • UMLS: C0265554
  • MeSH: -
  • GARD: 6319
  • MedDRA: -

Detailed information

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