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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Health and Sickness

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

a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity

Ex: Regular monitoring is essential to detect and manage potential complications of neurofibromatosis .

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

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

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

a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death

Ex: Diagnosis of Tay-Sachs disease is often confirmed through genetic testing .

a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe

Ex: Regular monitoring prevents iron overload , a common complication of thalassemia .

a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics

Ex:
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

Ex: While there is no cure for albinism , visual aids and sun protection can help manage associated challenges .

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

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

a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands

Ex:

a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands

a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications

Ex: Individuals with cystic fibrosis are at risk of developing complications such as diabetes and liver disease .

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

Ex: People with Down syndrome often lead fulfilling lives and can participate in various activities .

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

a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage

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

a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage

Ex: Hemochromatosis diagnosis involves blood and genetic tests .

a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences

Ex:

a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges

Ex:

a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits

a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms

Ex:

a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications

Ex:

a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles

Ex: Emily 's vision issues were linked to ocular dystrophy .

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

Ex: