Primerose syndrome

Primerose Syndrome is a rare genetic disorder characterized by a variety of symptoms including intellectual disability, distinctive facial features, and endocrine abnormalities. The syndrome was first described by Primerose in 1982, hence the name.

Symptoms and Signs

The symptoms of Primerose Syndrome can vary greatly among affected individuals. Common symptoms include intellectual disability, distinctive facial features such as a long, narrow face and a high-arched palate, and endocrine abnormalities such as diabetes mellitus and hypothyroidism. Other symptoms can include hearing loss, visual impairment, and behavioral problems.

Causes

Primerose Syndrome is caused by mutations in the ZBTB20 gene. This gene provides instructions for making a protein that is involved in the development of the brain and other parts of the body. Mutations in the ZBTB20 gene disrupt the normal development of these areas, leading to the symptoms of Primerose Syndrome.

Diagnosis

Diagnosis of Primerose Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the ZBTB20 gene.

Treatment

There is currently no cure for Primerose Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational services for those with intellectual disability. Endocrine abnormalities can be managed with medication.

Prognosis

The prognosis for individuals with Primerose Syndrome varies depending on the severity of symptoms. With appropriate management and support, many individuals with Primerose Syndrome can lead fulfilling lives.

See Also

• Genetic Disorders
• Intellectual Disability
• Endocrine System

NIH genetic and rare disease info

• NIH info on Primerose syndrome

Primerose syndrome is a rare disease.

Primerose syndrome Resources
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