Words Related to Health and Sickness

Words Related to Health and Sickness - Genetic Disorders

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15 min
Marfan syndromenoun

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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neurofibromatosisnoun

autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities

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Noonan syndromenoun

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 syndromenoun

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 syndromenoun

a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations

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tay-sachs diseasenoun

a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

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thalassaemianoun

an inherited form of anemia caused by faulty synthesis of hemoglobin

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tourette's syndromenoun

neurological disorder characterized by facial grimaces and tics and movements of the upper body and grunts and shouts and coprolalia

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albinism
albinismnoun

the congenital absence of pigmentation in the eyes and skin and hair

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Angelman syndromenoun

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 spondylitisnoun

a chronic form of spondylitis primarily in males and marked by impaired mobility of the spine; sometimes leads to ankylosis

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Apert syndromenoun

a genetic disorder with craniofacial abnormalities, fused fingers/toes, and skeletal issues due to FGFR2 gene mutations

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charcot-marie-tooth diseasenoun

a form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant

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congenital adrenal hyperplasianoun

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 fibrosisnoun

the most common hereditary disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known

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down syndromenoun

a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation

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Ehlers Danlos syndromenoun

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 diseasenoun

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 syndromenoun

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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hemophilianoun

a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding

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hemochromatosisnoun

pathology in which iron accumulates in the tissues; characterized by bronzed skin and enlarged liver and diabetes mellitus and abnormalities of the pancreas and the joints

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klinefelter syndromenoun

syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male

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turner's syndromenoun

a chromosomal disorder in females who have only one X chromosome; marked by dwarfism and heart abnormalities and underdeveloped sex organs

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Von Willebrand diseasenoun

bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency

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williams syndromenoun

a rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabulary

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huntington's diseasenoun

hereditary disease; develops in adulthood and ends in dementia

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sickle-cell diseasenoun

a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape

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dystrophynoun

any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles

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