Börjeson-Forssman-Lehmann syndrome

Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by

  • intellectual disability
  • obesity
  • seizures
  • gonadal failure (testes in males or the ovaries in females) to produce hormones (hypogonadism)
  • distinctive facial features.

Affected infants tend to experience delays in reaching developmental milestones.

Pathology

Genetics

It carries an x linked recessive inheritance with mutations in the PHF6 gene.

 

 

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Article information

rID: 70206
Section: Syndromes
Synonyms or Alternate Spellings:
  • Börjeson-Forssman-Lehmann syndrome (BFLS)

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