a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues

马凡综合征, 马凡病
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity

神经纤维瘤病
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, 努南遗传性疾病
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

普瑞德-威利综合征, 普瑞德-威利病
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations

雷特综合征, 雷特病
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death

泰-萨克斯病, GM2神经节苷脂沉积症
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, 珠蛋白生成障碍性贫血
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics

抽动秽语综合征, 图雷特氏症
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

天使综合征, 安格曼病
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations

阿佩尔综合征, 阿佩尔病
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands

夏科-马里-图斯病, 遗传性感觉运动神经病
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands

先天性肾上腺增生症, 先天性肾上腺皮质增生症
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, 囊肿性纤维化
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-当洛综合征, 埃勒斯-当洛病
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, 法布里症
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function

脆性X综合征, 脆性X染色体综合征
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding

血友病, 遗传性出血性疾病
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage

血色素沉着症
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences

克兰费尔特综合征
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges

特纳综合征
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, 威廉姆斯病
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, 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
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency

冯·威勒布兰德病, 冯·威勒布兰德因子缺乏症
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