Marshall–White syndrome

Marshall–White syndrome is a rare genetic disorder characterized by a combination of craniofacial abnormalities, hearing loss, and skeletal anomalies. It is named after the researchers who first described the condition.

Clinical Features

Individuals with Marshall–White syndrome typically present with a distinct set of clinical features, which may include:

• Craniofacial abnormalities such as a flat midface, short nose, and a small jaw (micrognathia).
• Hearing loss, which can be conductive, sensorineural, or mixed.
• Skeletal anomalies, including short stature and joint hypermobility.
• Ocular abnormalities such as myopia, cataracts, and retinal detachment.

Genetics

Marshall–White syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene or genes involved in Marshall–White syndrome have not been definitively identified, but it is believed to be related to mutations affecting collagen production.

Diagnosis

The diagnosis of Marshall–White syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other similar syndromes such as Stickler syndrome.

Management

There is no cure for Marshall–White syndrome, and treatment is symptomatic and supportive. Management may include:

• Hearing aids or cochlear implants for hearing loss.
• Orthopedic interventions for skeletal anomalies.
• Ophthalmologic care for ocular abnormalities.
• Speech therapy and other supportive therapies as needed.

Prognosis

The prognosis for individuals with Marshall–White syndrome varies depending on the severity of the symptoms. With appropriate management, many individuals can lead relatively normal lives.

Related Pages

• Craniofacial abnormalities
• Hearing loss
• Skeletal anomalies
• Autosomal dominant
• Collagen
• Stickler syndrome