Genetic Disorders: English Vocabulary List

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

"Marfan syndrome affects connective tissue."

"Marfan syndrome is a genetic disorder that affects the connective tissue in the body causing unusually long limbs."

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

"Neurofibromatosis causes tumors on nerves."

"Neurofibromatosis is a genetic disorder that causes tumors to grow on nerve tissue in the skin and brain."

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

"Noonan syndrome causes characteristic facial features."

"Noonan syndrome is a genetic disorder that causes abnormal facial features short stature and heart defects."

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

"Prader–Willi syndrome affects appetite and growth."

"Children diagnosed with Prader–Wii syndrome often require specialized dietary plans to manage their constant hunger."

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

"Rett syndrome affects mostly girls."

"Rett syndrome is a rare genetic neurological disorder that affects mostly girls and causes severe problems with language and coordination."

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

"Tay-Sachs destroys nerve cells."

"Tay Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord."

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

"Thalassemia reduces hemoglobin production."

"Thalassemia is an inherited blood disorder that causes the body to produce less hemoglobin than normal resulting in anemia."

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

"Tourette syndrome causes involuntary tics."

"Tourette syndrome is a nervous system disorder that causes involuntary repetitive movements and vocal sounds called tics."

a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin

"Albinism lacks melanin pigment."

"Albinism is a genetic condition that causes little or no production of melanin resulting in very pale skin and hair."

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

"Angelman syndrome causes developmental delay."

"Angelman syndrome is a genetic disorder that causes developmental delays intellectual disability and problems with movement and balance."

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

"Apert syndrome fuses skull bones early."

"Apert syndrome is a genetic disorder that causes the bones in the skull to fuse together prematurely affecting the shape of the head and face."

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

"Charcot-marie-tooth disease weakens leg muscles."

"People living with charcot-marie-tooth disease may need braces or surgery to support their weakened feet and ankles."

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

"Congenital adrenal hyperplasia disrupts hormone balance."

"Early diagnosis of congenital adrenal hyperplasia is crucial for managing cortisol levels and preventing serious complications."

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

"Cystic fibrosis patient."

"Cystic fibrosis affects lungs and digestive system."

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

"Down syndrome is trisomy 21."

"Down syndrome is a genetic disorder caused by an extra copy of chromosome twenty one that affects development."

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

"Ehlers Danlos syndrome affects connective tissue."

"Ehlers Danlos syndrome is a group of inherited disorders that affect the connective tissues primarily the skin joints and blood vessel walls."

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

"Fabry disease stores fats in cells."

"Fabry disease is a rare genetic disorder caused by a buildup of a certain type of fat in the body's cells."

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

"Fragile X causes intellectual disability."

"Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment."

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

"Hemophilia prevents blood clotting."

"Hemophilia is a rare bleeding disorder where the blood does not clot properly because it lacks enough clotting factors."

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

"Hemochromatosis stores excess iron."

"Hemochromatosis is a genetic disorder that causes the body to absorb too much iron from food which accumulates in organs."

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

"Klinefelter syndrome is XXY."

"Klinefelter syndrome is a genetic condition in which a male is born with an extra copy of the X chromosome."

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

"Turner syndrome is XO."

"Turner syndrome is a genetic condition that affects females and is caused by a missing or partially missing X chromosome."

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

"Williams syndrome spares language ability."

"Williams syndrome is a genetic disorder that often spares linguistic abilities despite cognitive delays."

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

"Huntington's disease affects the nervous system."

"Huntington's disease is an inherited disorder that causes the progressive breakdown of nerve cells in the brain."

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

"Sickle-cell disease changes blood cell shape."

"Patients with sickle-cell disease often experience episodes of severe pain that require immediate medical attention."

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

"Dystrophy causes progressive tissue wasting."

"Dystrophy refers to a group of disorders characterized by progressive weakness and degeneration of muscle tissue."

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

"Von Willebrand disease causes bleeding."

"Von Willebrand disease is a lifelong bleeding disorder caused by a deficiency of a protein that helps blood clot."