Conditions / Syndrome
autosomal dominant chondrodysplasia punctata
info · Syndrome · ICD-10: Q77.3
A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.
Signs and symptoms
- Talipes equinovarus
- Scoliosis
- Hip contracture
- Sparse hair
- Epiphyseal stippling
- Hyperkeratosis with erythema
- Knee flexion contracture
- Decreased circulating vitamin K concentration
- Cataract
- Coarse hair