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.
- Baumstark A et al (2003) Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome. J Med Genet 40: 50
- 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
- Flannery DB et al (1985) Dermatoglyphics in Borjeson-Forssman-Lehmann syndrome. At J Med Genet 21: 401-404
- Lower KM et al (2002) Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome. Nat Genet 32: 661-665
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer