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Split hand-split foot malformation

ORPHA2440
Synonym(s) Ectrodactyly
Lobster-claw deformity
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
UMLS
  • C0265554
MeSH -
MedDRA -

Summary

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), 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. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.


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