Borjeson-Forssman-Lehmann syndrome

Other Names: Borjeson Syndrome; BFLS; BORJ; Mental deficiency, epilepsy and endocrine disorders; Intellectual deficiency-epilepsy-endocrine disorders syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome

Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family.

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Cause

BFLS is caused by mutations in the PHF6 gene on the X chromosome.

Inheritance

X-linked recessive inheritance

This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.

Signs and symptoms Some of the symptoms may include: 80%-99% of people have these symptoms

• Broad foot(Broad feet)
• Camptodactyly of toe
• Coarse facial features(Coarse facial appearance)
• Cryptorchidism(Undescended testes)
• Decreased testicular size(Small testes)
• Gynecomastia(Enlarged male breast)
• Hypogonadism(Decreased activity of gonads)
• Hypoplasia of penis(Underdeveloped penis)
• Intellectual disability(Mental deficiency)
• Large earlobe(Fleshy earlobe)
• Muscular hypotonia(Low or weak muscle tone)
• Scrotal hypoplasia(Smaller than typical growth of scrotum)
• Short toe(Short toes)
• Sparse hair
• Tapered finger(Tapered fingertips)
• Truncal obesity

30%-79% of people have these symptoms

• Blepharophimosis(Narrow opening between the eyelids)
• Deeply set eye(Deep set eye)
• Feeding difficulties in infancy
• Prominent supraorbital ridges(Prominent brow)
• Ptosis(Drooping upper eyelid)
• Thick eyebrow(Bushy eyebrows)

5%-29% of people have these symptoms

• Abnormality of the hip bone(Abnormality of the hips)
• Cataract(Clouding of the lens of the eye)
• Hearing impairment(Deafness)
• Joint hyperflexibility(Joints move beyond expected range of motion)
• Macrocephaly(Increased size of skull)
• Microcephaly(Abnormally small skull)
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Oral cleft(Cleft of the mouth)
• Peripheral neuropathy
• Seizure
• Short stature(Decreased body height)
• Skeletal muscle atrophy(Muscle degeneration)

Diagnosis

Definitive diagnosis of BFLS is made with a genetic test, though it can be suspected where there are several people in a family showing the characteristic symptoms. Magnetic resonance imaging, electroencephalography, and electroneuronography can be used to assess the severity of the disease. Mutations in the PHF6 gene have been shown to be the cause of this condition. Skeletal radiography is done for skeletal abnormalities.

Treatment

There is no cure for BFLS, but its symptoms can be managed with surgery and medication. Surgery is used to treat cryptorchidism and cleft palate, whereas medication is used to treat epilepsy that may result from the condition. Treatment requires coordinated efforts of a team of specialists

NIH genetic and rare disease info

• NIH info on Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome is a rare disease.

Borjeson-Forssman-Lehmann syndrome Resources
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