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Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability, obesity, and growth defects.〔 == Signs and symptoms == Some symptoms of BFLS are discernible at birth, but they develop over time. Babies with BFLS are born at normal weight but have muscle hypotonia and difficulty feeding. As development progresses, moderate to severe intellectual disability and developmental delays become evident. Beyond intellectual disability, the central nervous system of affected people shows other symptoms, including impaired vision (cataracts and hyperopia, particularly) and nystagmus.〔 Vision impairments can develop before age 30.〔 The peripheral nervous system may also be affected by polyneuropathy.〔 Some individuals may have psychiatric problems, most commonly anxiety disorders, depression, behavioral disorders, and hypersexuality.〔 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. Kyphosis or scoliosis may also be present.〔〔 The genitourinary system is also affected by BFLS; the testes of affected children often show hypogonadism and cryptorchidism.〔 Diabetes has co-occurred in several cases.〔 Hearing loss, epilepsy, cleft lip and palate, acute precursor T-cell acute lymphoblastic leukemia, Legg-Calvé-Perthes disease, and hypopituitarism are uncommon.〔〔 People with XX chromosomes are usually carriers of the disease and show few, if any symptoms - if affected, they may have obesity, polyneuropathy, and/or mild intellectual disability.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Börjeson-Forssman-Lehmann syndrome」の詳細全文を読む スポンサード リンク
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