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Words Related to Health and Sickness - Genetic Disorders

Here you will learn some English words related to genetic disorders such as "albinism", "hemophilia", and "dystrophy".

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Words Related to Health and Sickness
Marfan syndrome
[noun]
a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
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neurofibromatosis
[noun]
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
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Noonan syndrome
[noun]
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
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Prader–Willi syndrome
[noun]
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
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Rett syndrome
[noun]
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
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tay-sachs disease
[noun]
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
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thalassaemia
[noun]
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
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Tourette syndrome
[noun]
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
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albinism
[noun]
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
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Angelman syndrome
[noun]
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
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ankylosing spondylitis
[noun]
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
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Apert syndrome
[noun]
a genetic disorder with craniofacial abnormalities, fused fingers/toes, and skeletal issues due to FGFR2 gene mutations
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charcot-marie-tooth disease
[noun]
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
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congenital adrenal hyperplasia
[noun]
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
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cystic fibrosis
[noun]
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
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Down syndrome
[noun]
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
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Ehlers Danlos syndrome
[noun]
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
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Fabry disease
[noun]
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
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fragile X syndrome
[noun]
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
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hemophilia
[noun]
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
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hemochromatosis
[noun]
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
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Klinefelter syndrome
[noun]
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
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turner's syndrome
[noun]
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
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Von Willebrand disease
[noun]
bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
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Williams syndrome
[noun]
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
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Huntington's disease
[noun]
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
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sickle-cell disease
[noun]
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
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dystrophy
[noun]
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
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