Conditions / Skin
restrictive dermopathy 1
info · Skin
A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
Signs and symptoms
- Narrow mouth
- Sparse eyebrow
- Hypertelorism
- Limb joint contracture
- Prominent superficial blood vessels
- Scaling skin
- Convex nasal ridge
- Thin skin
- Osteolytic defects of the distal phalanges of the hand
- Wide anterior fontanel