Borjeson Syndrome

Borjeson Syndrome Borjeson Syndrome, also known as B rjeson-Forssman-Lehmann syndrome (BFLS), is a rare genetic disorder characterized by a variety of symptoms including intellectual disability, physical abnormalities, and endocrine issues. It is an X-linked recessive condition, primarily affecting males, although females can be carriers and may exhibit mild symptoms.

History

Borjeson Syndrome was first described in 1962 by B rjeson, Forssman, and Lehmann, who identified a family with multiple affected members. The syndrome is named after these researchers.

Genetics

Borjeson Syndrome is caused by mutations in the PHF6 gene, which is located on the X chromosome. The PHF6 gene is responsible for encoding a protein involved in chromatin remodeling, which is crucial for regulating gene expression.

Inheritance

As an X-linked recessive disorder, Borjeson Syndrome is more common in males, who have only one X chromosome. Females, with two X chromosomes, are typically carriers and may show mild symptoms if they have a mutation in one of their PHF6 genes.

Symptoms

The symptoms of Borjeson Syndrome can vary widely among individuals but commonly include:

• Intellectual disability
• Hypogonadism
• Obesity
• Seizures
• Distinctive facial features such as a broad forehead, deep-set eyes, and large ears
• Gynecomastia in males

Diagnosis

Diagnosis of Borjeson Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the PHF6 gene.

Treatment

There is no cure for Borjeson Syndrome, and treatment is symptomatic and supportive. Management may include:

• Special education programs for intellectual disability
• Hormone replacement therapy for hypogonadism
• Seizure management with antiepileptic drugs

Prognosis

The prognosis for individuals with Borjeson Syndrome varies depending on the severity of symptoms. With appropriate management, individuals can lead fulfilling lives, although they may require lifelong support.

Research

Ongoing research is focused on understanding the function of the PHF6 gene and developing potential therapies to address the underlying genetic causes of Borjeson Syndrome.

See Also

• X-linked recessive disorders
• Intellectual disability
• Genetic counseling
• B rjeson, M., Forssman, H., & Lehmann, O. (1962). "A new X-linked mental retardation syndrome." *Acta Genetica et Statistica Medica*.
• Genetics Home Reference. "PHF6 gene."

NIH genetic and rare disease info

• NIH info on Borjeson Syndrome

Borjeson Syndrome is a rare disease.