Zdraví a Nemoci - Genetické poruchy

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

Marfanův syndrom

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

neurofibromatóza

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

Noonanův syndrom, noonanismus

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 syndrom, syndrom Prader a Willi

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

Rettův syndrom

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

Tay-Sachsova choroba, Tay-Sachsova nemoc

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

thalassemi

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

Touretteův syndrom, Tourettův syndrom (tiky)

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

albinismus

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

Angelmanův syndrom, Angelmanův syndrom (vzácná genetická porucha)

a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae

ankylozující spondylitida, chronická zánětlivá artritida

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

Apertův syndrom, Apertův syndrom (genetická porucha)

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

Charcot-Marie-Toothova nemoc, Charcot-Marie-Toothův syndrom

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

vrozená adrenální hyperplazie, vrozená hyperplazie nadledvin

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

cystická fibróza, cystická fibrozita

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

downův syndrom, trisomie 21

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

Ehlers-Danlosův syndrom, Ehlers-Danlosova nemoc

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

Fabryho choroba, fabryóza

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

fragilní X syndrom, syndrom fragilního X

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

hemofilie

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

hemachromatóza

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

Klinefelterův syndrom, Klinefelterův syndrom (genetická porucha)

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

Turnerův syndrom, Turnerův syndrom (genetická nemoc)

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

von Willebrandova choroba, deficit von Willebrandova faktoru

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

Williamsův syndrom

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

Huntingtonova choroba, Huntingtonova nemoc

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

sickelová nemoc, drepanocytóza

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

dystrofie, svalová dystrofie