Macdermot-Winter syndrome

Macdermot-Winter syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and other physical abnormalities. It is named after the two doctors, Dr. Macdermot and Dr. Winter, who first described the syndrome in medical literature.

Symptoms and Signs

The most common symptoms of Macdermot-Winter syndrome include distinctive facial features such as a prominent forehead, wide-set eyes (hypertelorism), a small nose with a broad nasal bridge, and a thin upper lip. Other physical abnormalities may include short stature, microcephaly (small head size), and abnormalities of the fingers and toes.

Intellectual disability is also a common feature of the syndrome, ranging from mild to severe. Some individuals with Macdermot-Winter syndrome may also have seizures, autism spectrum disorder, and/or attention deficit hyperactivity disorder (ADHD).

Causes

Macdermot-Winter syndrome is caused by mutations in the SON gene. This gene provides instructions for making a protein that is involved in the process of RNA splicing, which is a critical step in the production of proteins within cells. Mutations in the SON gene disrupt this process, leading to the production of abnormal proteins and the symptoms of Macdermot-Winter syndrome.

Diagnosis

Diagnosis of Macdermot-Winter syndrome is based on the presence of characteristic physical features and intellectual disability. Genetic testing can confirm the diagnosis by identifying a mutation in the SON gene.

Treatment

There is currently no cure for Macdermot-Winter syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.

See also

• Genetic disorder
• Intellectual disability
• SON gene
• RNA splicing

NIH genetic and rare disease info

• NIH info on Macdermot-Winter syndrome

Macdermot-Winter syndrome is a rare disease.

Macdermot-Winter syndrome Resources
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