Words Related to Health and Sickness

Words Related to Health and Sickness - Genetic Disorders

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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


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

Noonan syndromenoun

genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins

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

Rett syndromenoun

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

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


an inherited form of anemia caused by faulty synthesis of hemoglobin

tourette's syndromenoun

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


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

Angelman syndromenoun

a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15

ankylosing spondylitisnoun

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

Apert syndromenoun

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

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

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

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

down syndromenoun

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

Ehlers Danlos syndromenoun

a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production

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

fragile X syndromenoun

a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function


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


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

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

turner's syndromenoun

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

Von Willebrand diseasenoun

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

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

huntington's diseasenoun

hereditary disease; develops in adulthood and ends in dementia

sickle-cell diseasenoun

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


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

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