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.

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.

Epidemiology and Demographics

The incidence of the sporadic forms is unknown.

Differentiating Borjeson syndrome from other Diseases

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

Diagnosis

Symptoms

  • Walking is acquired late.
  • Adult forms usually combine intellectual deficit with seizures, poor muscular development and hyperextensible joints.
  • Frequent visual problems (hyperopia, cataract with onset before age 30) have also been reported.

Physical Examination

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

Treatment

Testosterone supplementation may enhance intellectual performance and induce weight loss when testosterone levels are low.[1]

References



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