Marshall syndrome (DOID:0111510)
Alliance: disease page
Synonyms: deafness, myopia, cataract, saddle nose-Marshall type; MRSHS
Alt IDs: OMIM:154780, MESH:C536025, NCI:C128115, ORDO:560, UMLS_CUI:C0265235
Definition: An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.