Important
Important
It is possible that the main title of the report Borjeson Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- BORJ
- Borjeson-Forssman-Lehmann Syndrome
- BFLS
Disorder Subdivisions
- None
General Discussion
Borjeson Syndrome is a rare genetic disorder primarily characterized by an unusual facial appearance, mental retardation, obesity, seizures, delayed sexual development, and/or poor muscle tone (hypotonia). The disorder is transmitted as an X-linked recessive trait and therefore is usually fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygous carriers) may manifest certain, usually more variable features of the disorder.
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Resources
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/100000409 or http://rarediseases.info.nih.gov/html/resources/info_cntr.html
