Conditions / Genetic
distal arthrogryposis type 2A
info · Genetic
A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
Signs and symptoms
- Narrow mouth
- Short nose
- Chordee
- Flexion contracture of finger
- Hypertelorism
- Overlapping toe
- Dental crowding
- Deeply set eye
- Camptodactyly
- Pursed lips
Also known as: DA2A; distal arthrogryposis type 2A (Freeman-Sheldon)