Börjeson-Forssman-Lehmann syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Börjeson-Forssman Lehmann syndrome ( BFLS ) is an X-linked -rezessiv inherited disease. The patients suffer from an intellectual disability which can be accompanied by epilepsy , malformations of the face, hypogonadism ; In addition, there is usually obesity , a considerable enlargement of the ears and higher eyebrow arches. Adult men may also experience a smaller penis or decreased muscle growth.
The cause of this syndrome is a mutation in the PHF6 gene. Because of the X-linked inheritance, almost only men are affected. Women with one of the two X chromosomes carrying the mutation can show a weak phenotype . Often times, BFL syndrome is mistakenly diagnosed as alcohol embryopathy .
The name of the disease can be traced back to the first description of the disease by Börjeson, Forssman and Lehmann in 1962.
The Wilson-Turner syndrome must be distinguished .
Web links
- Case study on BFL syndrome in the pediatric booklet
- More about the syndrome of NCBI (English)
- Information from the Ulm University Hospital
- Entry on Orphanet
Individual evidence
- ↑ M. Börjeson, H. Forssman, O. Lehmann: An Xlinked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. In: Acta Med Scand. (1962) 171, pp. 13-21.