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Börjeson-Forssman-Lehman Syndrome

Abstract

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NORD is very grateful to Professor Jozef Gecz, PhD, NH&MRC Principal Research Fellow, Head, Neurogenetics Laboratory, SA Pathology at the Women's and Children's Hospital, Adelaide, Australia and Dr. Matt Hunter, Clinical Genetics at the Genetics of Learning Disability (GOLD) Service in Newcastle, Australia, for their assistance in the preparation of this report.

Synonyms of Börjeson-Forssman-Lehman Syndrome

BFLS
BORJ
Borjeson syndrome

Disorder Subdivisions

No subdivisions found.

General Discussion

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).

Organizations related to Börjeson-Forssman-Lehman Syndrome

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