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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: Q74.8
  • OMIM: 183600  225300  246560  313350  605289  606708
  • UMLS: C0265554
  • MeSH: -
  • GARD: 6319
  • MedDRA: 10079827

  A summary on this disease is available in Italiano (2004) Français (2005) Español (2014) Nederlands (2014) Suomi (2014, pdf)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.