Marshall syndrome

Term ID

DOID:0111510

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. (3)

References

• GARD:6984
• MESH:C536025
• NCI:C128115
• OMIM:154780
• ORDO:560
• SNOMEDCT_US_2023_03_01:33410002
• UMLS_CUI:C0265235

Ontology

Human Disease   ( DOID:0111510 )