stiff skin syndrome (DOID:0111561)
Alliance: disease page
Synonyms: SSKS
Alt IDs: OMIM:184900, MESH:C566112, NCI:C118636, ORDO:2833, UMLS_CUI:C1861456
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.