Börjeson-Forssman-Lehmann syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Börjeson–Forssman–Lehmann syndrome | |
|---|---|
| |
| Synonyms | BFLS |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, obesity, seizures, hypogonadism, gynecomastia, large ears, prominent supraorbital ridges |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the PHF6 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Prader-Willi syndrome, Coffin-Lowry syndrome, Sotos syndrome |
| Prevention | |
| Treatment | Symptomatic treatment, supportive care |
| Medication | Anticonvulsants for seizures |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | |
Börjeson-Forssman-Lehmann_syndrome (BFLS) is a rare X-linked genetic disorder that affects males more severely than females. It is characterized by intellectual disability, obesity, hypogonadism, and distinctive facial features.
Signs and Symptoms
BFLS is characterized by a range of symptoms, including intellectual disability, obesity, hypogonadism, and distinctive facial features. Other symptoms may include epilepsy, hearing loss, and behavioral problems.
Causes
BFLS is caused by mutations in the PHF6 gene, which is located on the X chromosome. This gene is involved in the regulation of cell division and DNA repair.
Diagnosis
The diagnosis of BFLS is based on the presence of characteristic clinical features and confirmed by genetic testing.
Treatment
There is currently no cure for BFLS. Treatment is supportive and based on the symptoms present in each individual.
Prognosis
The prognosis for individuals with BFLS varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.
See Also
References
External Links
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Contributors: Prab R. Tumpati, MD
