Borjeson syndrome

(Redirected from Borjeson Syndrome)
Jump to navigation Jump to search

WikiDoc Resources for Borjeson syndrome

Articles

Most recent articles on Borjeson syndrome

Most cited articles on Borjeson syndrome

Review articles on Borjeson syndrome

Articles on Borjeson syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Borjeson syndrome

Images of Borjeson syndrome

Photos of Borjeson syndrome

Podcasts & MP3s on Borjeson syndrome

Videos on Borjeson syndrome

Evidence Based Medicine

Cochrane Collaboration on Borjeson syndrome

Bandolier on Borjeson syndrome

TRIP on Borjeson syndrome

Clinical Trials

Ongoing Trials on Borjeson syndrome at Clinical Trials.gov

Trial results on Borjeson syndrome

Clinical Trials on Borjeson syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Borjeson syndrome

NICE Guidance on Borjeson syndrome

NHS PRODIGY Guidance

FDA on Borjeson syndrome

CDC on Borjeson syndrome

Books

Books on Borjeson syndrome

News

Borjeson syndrome in the news

Be alerted to news on Borjeson syndrome

News trends on Borjeson syndrome

Commentary

Blogs on Borjeson syndrome

Definitions

Definitions of Borjeson syndrome

Patient Resources / Community

Patient resources on Borjeson syndrome

Discussion groups on Borjeson syndrome

Patient Handouts on Borjeson syndrome

Directions to Hospitals Treating Borjeson syndrome

Risk calculators and risk factors for Borjeson syndrome

Healthcare Provider Resources

Symptoms of Borjeson syndrome

Causes & Risk Factors for Borjeson syndrome

Diagnostic studies for Borjeson syndrome

Treatment of Borjeson syndrome

Continuing Medical Education (CME)

CME Programs on Borjeson syndrome

International

Borjeson syndrome en Espanol

Borjeson syndrome en Francais

Business

Borjeson syndrome in the Marketplace

Patents on Borjeson syndrome

Experimental / Informatics

List of terms related to Borjeson syndrome

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

Template:WH Template:WS