Marshall syndrome

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Disease Overview

Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial.[4693] Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.[4694]


Synonyms

  • Deafness, myopia, cataract, saddle nose-Marshall type

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National Organization for Rare Disorders