Conditions / Genetic
diastrophic dysplasia
info · Genetic · ICD-10: Q77.5
An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
Signs and symptoms
- Disproportionate short-limb short stature
- Small for gestational age
- Genu valgum
- Short chin
- Cleft palate
- Lumbar hyperlordosis
- Patellar dislocation
- Talipes equinovarus
- Hypertrophic auricular cartilage
- Hitchhiker thumb