Conditions / Genetic
preaxial polydactyly I
info · Genetic
A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.
Signs and symptoms
- Preaxial hand polydactyly
- Radial deviation of thumb terminal phalanx
- Partial duplication of thumb phalanx