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fraser syndrome : ウィキペディア英語版
fraser syndrome

Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder.〔Jules François. Syndrome malformatif avec cryptophthalmie. (Note préliminaire.) Ophthalmologica, Basel, 1965, 150: 215.〕 Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.
==Signs and symptoms==
It is characterized by developmental defects including cryptophthalmos (where the eyelids fail to separate in each eye), and malformations in the genitals (such as micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears, larynx and renal system, as well as mental retardation, manifest occasionally. Syndactyly (fused fingers or toes) has also been noted.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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