Conditions / Syndrome
proximal symphalangism 1
info · Syndrome
A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
Signs and symptoms
- Proximal finger symphalangism
- Stapes ankylosis
- Conductive hearing impairment
- Tarsal synostosis
- Carpal synostosis
- Short 5th metacarpal
- Aplasia/Hypoplasia of the middle phalanges of the toes
- Aplasia/Hypoplasia of the middle phalanges of the hand
- Distal finger symphalangism
- Metacarpophalangeal synostosis