Term Name:	Marshall syndrome
Synonyms:	deafness, myopia, cataract, saddle nose-Marshall type, MRSHS
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.
Ontology:	Human Disease [DOID:0111510]   ( DOID:0111510 )