Conditions / Skin
autosomal recessive cutis laxa type IIC
info · Skin · ICD-10: Q82.8
An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
Signs and symptoms
- Strabismus
- Hypotonia
- Type II transferrin isoform profile
- Overlapping toe
- Dental crowding
- Wide nasal base
- Premature sagging cheeks
- Median cleft palate
- Convex nasal ridge
- Prominent superficial veins