The Marshall syndrome is one of a group of disorders having a combination of skeletal and ocular manifestations sometimes called hereditary vitreoretinopathies.
Most patients are highly nearsighted. The vitreous (the jelly like material in the back of the eye) degenerates increasing the risk of a retinal detachment. The retina otherwise seems to be normal. Some are born with cataracts while others develop them as juveniles. X-rays reveal numerous bone malformations, especially in the face and skull. As a result, the face appears flattened in the middle portion, the bridge of the nose is flat and the nares are upturned. Hearing loss, even in the first year of life, is common. Many individuals are somewhat short and stocky and the joints are stiff. Osteoarthritis of knees and spine begins in midlife. Abnormalities of sweating and thin hair are often present.
This is an autosomal dominant disorder in which the mutation is passed directly from parent to child in a vertical pattern.
The diagnosis is often made by an ophthalmologist and/or a pediatrician. Life expectancy is normal and vision in most cases is also normal. Cataracts may require surgery and retinal detachments can be repaired successfully if diagnosed early. No treatment is available for the genetic defect.