Börjeson-Forssman-Lehmann Syndrome

Bärjeson-Forssman-Lehmann syndrome is a rare genetic disease characterized by mental retardation, facial features, and skin and skeletal lesions.

This disease was first described in 1962 by Swedish doctors Mats Bärjeson, Jan Forssman and Ollier Lehmann, after whom it was named.

The main symptoms of Bärjeson-Forssman-Lehmann syndrome:

1. Mental retardation of varying severity

2. Characteristic facial features: high forehead, hypertelorism (wide-set eyes), ptosis (drooping of the upper eyelid), low-set ears

3. Skeletal abnormalities: chest deformities, scoliosis, joint contractures, arachnodactyly (finger deformities)

4. Skin lesions: hyperkeratosis (thickening of the stratum corneum), x-shaped hypopigmentation of the palms and soles

5. Decreased muscle tone

6. Stunting

7. Increased sensitivity to infections

The cause of the syndrome is a mutation in the Xq26.2 chromosome. The disease is inherited in an X-linked recessive manner and occurs predominantly in boys.

Treatment of Bärjeson-Forssman-Lehmann syndrome is symptomatic - correction of mental and physical development, orthopedic intervention if necessary. The prognosis depends on the degree of damage to the nervous system.

Bärjeson-Forssman-Lehmann syndrome is a rare genetic disorder characterized by mental retardation, large facial features, obesity and hypogonadism in boys.

This syndrome was first described in 1962 by Swedish doctors Maria Bärjeson, John Forssman and Olga Lehmann. It is caused by a mutation in the NHS gene, located on the X chromosome.

The main features of Bärjeson-Forssman-Lehmann syndrome:

1. Mental retardation of varying severity. IQ usually ranges from 20 to 70.

2. Large and rough facial features, large chin, prominent cheekbones.

3. Obesity, especially in adolescence.

4. Hypogonadism in boys, characterized by small genitals and lack of puberty.

5. Convulsions and walking disorders.

6. Increased risk of developing type 2 diabetes.

Diagnosis is based on clinical presentation and NHS gene analysis. Treatment is symptomatic and includes drug correction of seizures, obesity, and diabetes. The prognosis is generally unfavorable.