Orphanet: Borjeson Forssman Lehmann syndrome

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Borjeson-Forssman-Lehmann syndrome

Disease definition

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.


Classification level: Disorder
  • Synonym(s):
    • BFLS
    • Intellectual disability-epilepsy-endocrine disorders syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 301900
  • UMLS: C0265339
  • MeSH: C536575
  • GARD: 936
  • MedDRA: -

Detailed information

Article for general public


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