Borjeson-Forssman-Lehmann syndrome
Overview
Borjeson-Forssman-Lehmann syndrome is characterised by the association of intellectual deficit with endocrine anomalies, epilepsy, hypogonadism and facial dysmorphism.
Symptoms
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.
Causes
The incidence of the sporadic forms is unknown. 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.