Marshall syndrome

Marshall syndrome is a rare genetic disorder characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and skeletal changes. It is caused by mutations in the COL11A1 gene, which encodes a component of type XI collagen, an important structural protein found in cartilage and other connective tissues. Marshall syndrome shares significant clinical overlap with Stickler syndrome type II, and some experts have debated whether they represent the same or distinct conditions, though Marshall syndrome is generally considered a separate entity. Key clinical features include a characteristic flat midface with a flattened nasal bridge (midface hypoplasia), prominent eyes, short upturned nose, and a round flat face. Ocular findings are prominent and may include severe myopia (nearsightedness), cataracts (often developing in childhood or adolescence), and occasionally retinal detachment. Sensorineural hearing loss is a hallmark feature and is typically moderate to severe, often present from early childhood. Skeletal abnormalities may include short stature, spondyloepiphyseal dysplasia, and mild joint hypermobility. Some patients may also develop early-onset osteoarthritis. Intracranial calcifications, particularly of the frontal region, have also been described. There is currently no cure for Marshall syndrome, and treatment is supportive and symptom-based. Management typically involves regular ophthalmologic evaluations to monitor and treat myopia, cataracts, and retinal complications; audiologic assessments with hearing aids or other assistive devices for hearing loss; and orthopedic follow-up for skeletal manifestations. A multidisciplinary approach involving geneticists, ophthalmologists, audiologists, and orthopedic specialists is recommended for optimal care.

Common questions about Marshall syndrome