lethal restrictive dermopathy (DOID:0060762)
Alliance: disease page
Synonyms: hyperkeratosis-contracture syndrome; tight skin contracture syndrome
Alt IDs: OMIM:275210, MESH:C536920, ORDO:1662, UMLS_CUI:C0406585
Definition: A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.