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Hoyeraal-Hreidarsson syndrome : ウィキペディア英語版 | Hoyeraal-Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. Being an X-linked disorder, HHS primarily affects males. Patients with HHS typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation.〔 The primary cause of death in HHS is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant. == Characteristics == The currently recognized features of HHS are cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation. HHS patients also commonly exhibit symptoms such as microcephaly, aplastic anemia, and mental retardation.〔
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「Hoyeraal-Hreidarsson syndrome」の詳細全文を読む
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