Conditions / Genetic
distal arthrogryposis type 2B3
info · Genetic
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
Signs and symptoms
- Downslanted palpebral fissures
- Narrow mouth
- Adducted thumb
- Camptodactyly
- Ulnar deviation of the hand
- Scoliosis
- Talipes equinovarus
- Short stature
- Overlapping fingers
- Ptosis
Also known as: DA2B3; distal arthrogryposis type 2B3 (Sheldon-Hall)