split hand-foot malformation
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.
MONDO:0003847
hereditary disease
is_a
MONDO:0018234
dysostosis
is_a
FEWER digits
exact
SHFM
exact
Split Hand/Split Foot Malformation
exact
ectrodactyly
exact
split hand foot malformation
exact
split-hand/foot malformation
exact
SPBC800.10c SPBC83.01 SPBC11G11.02c SPAC1687.09