split hand-foot malformation 1

info · Genetic · ICD-10: Q71.6

A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

Signs and symptoms

Split hand
Split foot
Cleft palate
Finger aplasia
Foot oligodactyly
Syndactyly
Triphalangeal thumb
Ectrodactyly
Broad hallux
Clinodactyly

Also known as: SHFD1; SHFM1