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Metadata
ID DOID:0111510
Name Marshall syndrome
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 COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome.
https://www.ncbi.nlm.nih.gov/pubmed/13520885, https://www.ncbi.nlm.nih.gov/pubmed/25073711, https://www.ncbi.nlm.nih.gov/pubmed/9529347
Xrefs

GARD:6984

MESH:C536025

NCI:C128115

OMIM:154780

ORDO:560

SNOMEDCT_US_2019_09_01:33410002

UMLS_CUI:C0265235

Synonyms

deafness, myopia, cataract, saddle nose-Marshall type [EXACT]

MRSHS [EXACT]

Parent Relationships

is_a ectodermal dysplasia

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