Conditions / Syndrome
X-linked chondrodysplasia punctata 2
info · Syndrome
A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
Signs and symptoms
- Patchy alopecia
- Cataract
- Erythroderma
- Rhizomelia
- Epiphyseal stippling
- Moderate intellectual disability
- Stippled calcification in carpal bones
- Flat face
- Sparse eyebrow
- Sparse hair
Also known as: Conradi-Hunermann Syndrome; Happle syndrome