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a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
马凡综合症
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
神经纤维瘤
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
努南综合征, 努南症
a genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15
普拉德-威利综合症, 普拉德与威利综合症
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
雷特综合症
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
泰-萨克斯病, 泰-萨克斯综合症
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
地中海贫血
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
妥瑞症, 妥瑞症（抽动症）
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
白化病
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
安吉尔曼综合症, 安吉尔曼综合症（罕见遗传疾病）
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
强直性脊柱炎, 慢性炎症性关节炎
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
阿佩尔综合症, 阿佩尔综合症（遗传性疾病）
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
查尔科-马里-图斯病, 查尔科-马里-图斯综合症
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
先天性肾上腺增生, 先天性肾上腺疾病
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
囊性纤维化, 囊性纤维症
a genetic condition caused by the presence of an extra copy of chromosome 21, leading to intellectual disabilities, distinct facial features, and potential health issues
唐氏综合症, 21三体综合症
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
埃勒斯-丹洛斯综合症, 埃勒斯-丹洛斯病
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
法布里病, 法布里综合症
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
脆弱X综合征, Fragile X综合症
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
血友病
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
血色病
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
克兰菲尔特综合症, 克兰菲尔特综合症（遗传状况）
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
特纳综合症, 特纳综合症（遗传状态）
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
冯·威廉病, 冯·威廉因子缺乏症
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
威廉姆斯综合征
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
亨廷顿病, 亨廷顿舞蹈症
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
镰状细胞病, 寻常性镰状细胞贫血
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
营养不良, 肌肉营养不良
