Borjeson syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S

Synonyms and keywords: Borjeson-Forssman-Lehmann syndrome , BFL syndrome, Mental deficiency - epilepsy - endocrine disorders.

Overview

Borjeson-Forssman-Lehmann syndrome is characterised by the association of intellectual deficit with endocrine anomalies, epilepsy, hypogonadism and facial dysmorphism.

Epidemiology and Demographics

The incidence of the sporadic forms is unknown.

Pathophysiology

Genetics

The disorder is inherited as an X-linked recessive trait and is caused by mutations in the PHF6 gene, which maps to the human Xq26q27 region. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation.

Differential diagnosis

The differential diagnosis of obesity related syndromes includes the Prader-Willi, Bardet-Biedl, or Wilson-Turner syndromes.

Diagnosis

History and Symptoms

• Adult forms usually combine intellectual deficit with seizures, poor muscular development and hyperextensible joints.
• Mixed hypogonadism with small soft testes (testicular volume: 8mL), micropenis, sparse pubic hair, and low testosterone levels are also present and gynecomastia appears after puberty.
• Progressive dysmorphism occurs with coarse facies due to thickened connective tissue, deep-set eyes accentuated by prominent eyebrows, narrow palpebral openings and/or ptosis, and long, thick ears with large but normally shaped lobes.
• Frequent visual problems (hyperopia, cataract with onset before age 30) have also been reported.
• Newborns are obese, hypotonic, and have large ears and micropenis.
• Walking is acquired late.

The clinical history and physical findings in the affected males reveal that the phenotype becomes milder, varies and evolves with age.

• Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia.
• As schoolboys, the picture is one of learning problems and moderate short stature, with emerging truncal obesity and gynecomastia.
• Head circumferences are usually normal but macrocephaly may be seen.
• Big ears and small genitalia remain.
• The toes are short and fingers tapered and malleable.
• In late adolescence and adult life, the classically described heavy facial appearance emerges.

Treatment

Testosterone supplementation may enhance intellectual performance and induce weight loss when testosterone levels are low.