Isolated split hand-split foot malformation

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.

Overlapping fingers

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.


Total: 1

                      


(per page)
PMID (PMCID)
26305313
MALE Infant, Newborn
Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association.
Kislal FM, Altuntas N, Ozdemir O, Ceylaner S, Kislal MH, Andiran N.
J Coll Physicians Surg Pak. 2015;25(8):619-20.
The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.