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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
马凡综合征
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
普瑞德-威利综合征
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
雷特综合征
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
泰萨克斯病
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
抽动秽语综合征
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
天使综合症
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
强直性脊柱炎
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
阿珀特综合征
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
腓骨肌萎缩症
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
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
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
埃勒斯·丹洛斯综合征
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
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
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
特纳综合症
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
血管性血友病
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
威廉姆斯综合症
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
亨廷顿氏病
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
镰状细胞性贫血症
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
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