Borjeson syndrome

Borjeson-Forssman-Lehmann syndrome (BFLS), also known simply as Borjeson syndrome, is a rare X-linked recessive genetic disorder characterized by intellectual disability, obesity, seizures, hypogonadism, and distinctive facial features. The syndrome was first described in 1962 by Borjeson, Forssman, and Lehmann after observing these symptoms in multiple male members of a Swedish family.

Causes

Borjeson-Forssman-Lehmann syndrome is caused by mutations in the PHF6 gene located on the X chromosome. This gene plays a crucial role in the regulation of chromatin structure and gene expression. Mutations in PHF6 interfere with normal development and function of various systems in the body, leading to the symptoms observed in BFLS.

Symptoms

The clinical presentation of Borjeson-Forssman-Lehmann syndrome can vary significantly among affected individuals. Common symptoms include:

• Intellectual disability
• Obesity
• Seizures
• Hypogonadism
• Distinctive facial features, such as a large head, thick eyebrows, deep-set eyes, and a broad nasal bridge
• Hearing loss
• Gynecomastia in males
• Skeletal anomalies
• Psychiatric disorders in some cases

Diagnosis

Diagnosis of Borjeson-Forssman-Lehmann syndrome is based on clinical evaluation and the presence of characteristic symptoms. Genetic testing for mutations in the PHF6 gene can confirm the diagnosis. Prenatal diagnosis is possible if there is a known mutation in the family.

Treatment

There is no cure for Borjeson-Forssman-Lehmann syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for affected individuals. This may include:

• Special education programs and therapies for intellectual disability
• Management of obesity through diet and physical activity
• Treatment of seizures with antiepileptic drugs
• Hormone replacement therapy for hypogonadism
• Surgical interventions for skeletal anomalies and gynecomastia
• Hearing aids for hearing loss

Prognosis

The prognosis for individuals with Borjeson-Forssman-Lehmann syndrome varies depending on the severity of symptoms. With appropriate management, many affected individuals can lead a relatively normal life. However, the intellectual disability and health issues associated with the syndrome can impact life expectancy and quality of life.

Epidemiology

Borjeson-Forssman-Lehmann syndrome is a rare disorder, with a small number of cases reported worldwide. It affects males more severely due to its X-linked recessive inheritance pattern. Females who carry one copy of the mutation may show some mild symptoms but generally do not develop the full syndrome.