National Organization for Rare Disorders, Inc.
- Borjeson syndrome
Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability, 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).
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1825 K Street NW, Suite 1200
Washington, DC 20006
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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Last Updated: 4/3/2012
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