Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases

Gul D., Oktenli C.

CLINICAL DYSMORPHOLOGY, vol.11, no.3, pp.183-186, 2002 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 3
  • Publication Date: 2002
  • Doi Number: 10.1097/00019605-200207000-00006
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.183-186


Split hand and foot malformation syndrome (SHFM) is characterized by the absence of the central digital rays, deep median cleft, and syndactyly of the remaining digits. The majority of the familial cases are inherited in an autosomal dominant manner. Here we report on nine cases of SHFM in an inbred kindred. A variable intrafamilial expression of the malformation pattern is apparent. Autosomal recessive inheritance and a two-locus model are discussed.