Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability, obesity, and growth defects.

Babies with BFLS are born at normal weight but have muscle hypotonia and difficulty feeding.

[2] Beyond intellectual disability, the central nervous system of affected people shows other symptoms, including impaired vision (cataracts and hyperopia, particularly) and nystagmus.

[3] The appearance of affected individuals is characteristic, featuring ptosis, large ears, supraorbital ridge, short stature (in approximately half of affected individuals), gynecomastia, deposits of abdominal fat, swollen cheeks and eyelids, short toes, and tapered fingers.

[2] BFLS is an X-linked recessive genetic disease caused by mutations in PHF6, a gene that encodes a zinc finger protein involved in cell growth.

[2] Definitive diagnosis of BFLS is made with a genetic test, though it can be suspected where there are several people in a family showing the characteristic symptoms.