What is marshall white syndrome?

Marshall-White syndrome, also known as Females restricted intellectual disability, is a rare genetic disorder characterized by intellectual disability with normal physical growth and development. It primarily affects females, as the genetic mutation occurs on the X chromosome.

Symptoms of Marshall-White syndrome typically manifest in early childhood and include intellectual disability, delayed speech development, poor communication skills, and difficulty with social interactions. Other common features may include behavioral problems, seizures, and coordination difficulties.

The underlying cause of Marshall-White syndrome is a mutation in the MED12 gene located on the X chromosome. This abnormality affects the production of a protein that plays an important role in the regulation of gene expression.

There is currently no cure for Marshall-White syndrome, and treatment is primarily supportive and focused on managing symptoms. This may include speech therapy, educational support, and medication to control seizures or other associated symptoms.

Genetic counseling may be recommended for families affected by Marshall-White syndrome due to its X-linked inheritance pattern, which can result in multiple generations being affected. A proper diagnosis is essential for appropriate management and care.