Conditions / Skin
autosomal recessive cutis laxa type IIIB
info · Skin · ICD-10: Q82.8
An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
Signs and symptoms
- Inguinal hernia
- Dermal translucency
- Pyloric stenosis
- Flexion contracture
- Sparse hair
- Osteoporosis
- Narrow nasal ridge
- Prominent forehead
- Large fontanelles
- Hypertelorism
Also known as: ARCL3B; De Barsy syndrome B