Conditions / Skin
stiff skin syndrome
info · Skin
A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.
Signs and symptoms
- Camptodactyly
- Stiff skin
- Elbow flexion contracture
- Knee flexion contracture
- Limited shoulder movement
- Myopia
- Gastroesophageal reflux
- Cataract
- Peripheral neuropathy
- Short stature
Also known as: SSKS