Conditions / Genetic
Smith-McCort dysplasia 2
info · Genetic
A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.
Signs and symptoms
- Broad phalanx
- Broad femoral neck
- Limited elbow extension
- Hypoplasia of the odontoid process
- Short stature
- Short metacarpal
- Flattened epiphysis
- Short metatarsal
- Hyperlordosis
- Genu valgum