NORD's
Washington Office
 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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should never be used for diagnostic or treatment purposes. If you have questions regarding
a medical condition, always seek the advice of your physician or other qualified health
professional. NORD's reports provide a brief overview of rare diseases. For more specific
information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 1994, 2001, 2002, 2007
NORD is very grateful to Professor Jozef Gecz, PhD, NH&MRC Senior Research Fellow,
Head, Neurogenetics Laboratory, Department of Genetic Medicine, WomenÂ’s and ChildrenÂ’s Hospital, Adelaide, Australia , for assistance in the preparation of this report.
Synonyms of Borjeson-Forssman-Lehman Syndrome
- BFLS
- BORJ
- Borjeson Syndrome
Disorder Subdivisions
General Discussion
Borjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by mental retardation, obesity, seizures, failure of the testes in males or the ovaries in females to produce hormones (hypogonadism), and distinctive facial features. Affected infants often experience delays in reaching developmental milestones. The exact symptoms vary from case to case, even among members of the same family.
BFLS is caused by disruptions or changes (mutations) of the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males. Females who carry a single copy of the disease gene (heterozygous carriers) may develop some variable features of the disorder, however, in some instances they can have features similar to the affected males (i.e. be considered as affected with the syndrome).
Organizations related to Borjeson-Forssman-Lehman Syndrome
- Arc
1660 L Street, NW, Suite 301
Washington DC 20036
Phone #: 202-534-3700
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
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