Conditions / Genetic
acromesomelic dysplasia, Hunter-Thompson type
info · Genetic
An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
Signs and symptoms
- Fibular hypoplasia
- Short foot
- Hypoplasia of the ulna
- Elbow dislocation
- Acromesomelia
- Distal femoral bowing
- Severe short-limb dwarfism
- Hip dislocation
- Cuboidal metacarpal
- Shortening of all middle phalanges of the fingers
Also known as: acromesomelic dwarfism; acromesomelic dysplasia-2C