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Split hand-foot malformation

MONDO:0016576

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect 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). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.

Also known as: FEWER digits, SHFM, Split Hand/Split Foot Malformation, ectrodactyly, split hand foot malformation, split-hand/foot malformation, isolated split hand-split foot malformation, split hand-split foot malformation

36 clinical trials for this condition and its sub-types.

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Sub-types

Split hand-foot malformation 3 (1) Split hand-foot malformation 1 (0) Split hand-foot malformation 2 (0) Split hand-foot malformation 4 (0) Split hand-foot malformation 5 (0) Split hand-foot malformation 6 (0)

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Human disease (14) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by developmental or physiological process (0)
Trials to join now! 17 Not yet recruiting 6 Not yet finished but already full! 5 Completed 7 Terminated 1
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