Borjeson-Forssman-Lehmann syndrome

Definition:

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Mutations in the zinc finger gene PHF6 are the cause of BFLS.

References:

[1]. G Turner, et al. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet. 2004 Mar;65(3):226-32. [Content Brief]

[2]. Jozef Gécz, et al. The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). Eur J Hum Genet. 2006 Dec;14(12):1233-7. [Content Brief]

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