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Börjeson-Forssman-Lehman Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

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).

Börjeson-Forssman-Lehman Syndrome Resources

Organizations:

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