Primrose syndrome

Autosomal dominant - en

Primrose syndrome is a rare genetic disorder characterized by a variety of physical, developmental, and neurological abnormalities. The condition was first described by Dr. David A. Primrose in 1982. Individuals with Primrose syndrome often present with distinctive facial features, hearing loss, intellectual disability, and other systemic manifestations.

Presentation

The clinical features of Primrose syndrome can vary widely among affected individuals. Common characteristics include:

• Macrocephaly (an abnormally large head)
• Hearing loss
• Intellectual disability
• Muscle weakness
• Joint contractures
• Diabetes mellitus
• Calcification of the external ears
• Autism spectrum disorder

Genetics

Primrose syndrome is caused by mutations in the ZBTB20 gene, which plays a role in the development and function of various tissues in the body. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

Diagnosis

Diagnosis of Primrose syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the ZBTB20 gene. Differential diagnosis may include other syndromes with overlapping features, such as Sotos syndrome and Weaver syndrome.

Management

There is no cure for Primrose syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary approach, including:

• Audiology services for hearing loss
• Physical therapy for muscle weakness and joint contractures
• Endocrinology for diabetes management
• Special education services for intellectual disability
• Behavioral therapy for autism spectrum disorder

Prognosis

The prognosis for individuals with Primrose syndrome varies depending on the severity of symptoms and the presence of associated complications. Early intervention and supportive care can improve the quality of life for affected individuals.

See also

• Genetic disorder
• Autosomal dominant
• Intellectual disability
• Hearing loss
• Diabetes mellitus

External links

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