Term Name: | stiff skin syndrome |
---|---|
Synonyms: | SSKS |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111561] ( DOID:0111561 ) |