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Marshall syndrome
Summary
- Synonym
-
- MRSHS
- deafness, myopia, cataract, saddle nose-Marshall type
- 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.
- Super Class
- ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0111510
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
