split-hand/foot malformation with long bone deficiencies

Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity.

Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenotypic expression and associated anomalies, and uncertain inheritance pattern.

SHFLD is usually inherited as an autosomal dominant trait with reduced penetrance, although recessive inheritance has also been postulated.

Types

 split-hand/foot malformation with long bone deficiency type 1 (SHFLD1 at 1q42.2-q43) (MIM.119100)
 split-hand/foot malformation with long bone deficiency type 2 (SHFLD2 at 6q14.1) (MIM.610685)

References

 Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U. Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet. 2007 Jan;80(1):105-11. PMID: 17160898