Borjeson-forssmann-lehmann syndromeQ87.8

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

HistoryThis section has been translated automatically.

Borjeson, Forssman and Lehmann, 1962

DefinitionThis section has been translated automatically.

Very rare hereditary syndrome characterized by mental deficiency, epilepsy, endocrinological disorders, hypogonadism, obesity, gynecomastia and facial lymphedema, among others.

EtiopathogenesisThis section has been translated automatically.

X-linked recessive inheritance of a defect of the PHF6 gene (Plant Homeodomain gene 6 gene; gene locus: Xq26).

LiteratureThis section has been translated automatically.

  1. Baumstark A et al (2003) Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome. J Med Genet 40: 50
  2. Borjeson M, Forssman H, Lehmann O (1962) An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med Scand 171: 13-21
  3. Flannery DB et al (1985) Dermatoglyphics in Borjeson-Forssman-Lehmann syndrome. At J Med Genet 21: 401-404
  4. Lower KM et al (2002) Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome. Nat Genet 32: 661-665

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer