Marshall syndrome

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

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.

Signs and symptoms

• Short nose
• Cataract
• Midface retrusion
• Depressed nasal bridge
• Sensorineural hearing impairment
• Myopia
• Epicanthus
• Irregular distal femoral epiphysis
• Long philtrum
• Retinal detachment

Also known as: MRSHS; deafness, myopia, cataract, saddle nose-Marshall type