Saúde e Doença - Distúrbios genéticos

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

síndrome de Marfan

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

neurofibromatose

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

síndrome de Noonan, noonanismo

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

síndrome de Prader-Willi, síndrome de Prader e Willi

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

síndrome de Rett

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

doença de Tay-Sachs, distúrbio de Tay-Sachs

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

talassemia

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

síndrome de Tourette, síndrome de Tourette (tiques)

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

albinismo

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

síndrome de Angelman, síndrome de Angelman (transtorno genético raro)

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

espondilite anquilosante, artrite inflamatória crônica

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

Síndrome de Apert, Síndrome de Apert (doença genética)

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

doença de Charcot-Marie-Tooth, síndrome de Charcot-Marie-Tooth

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

hiperplasia adrenal congênita, doença adrenal congênita

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

fibrose cística, cistic fibrosis

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

síndrome de Down, trissomia 21

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

síndrome de Ehlers-Danlos, doença de Ehlers-Danlos

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

doença de Fabry, fabriose

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

síndrome do X frágil, síndrome X frágil

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

hemofilia

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

hemocromatose

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

síndrome de Klinefelter, síndrome de Klinefelter (condição genética)

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

síndrome de Turner, síndrome de Turner (condição genética)

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

doença de von Willebrand, deficiência de von Willebrand

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

síndrome de Williams

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

doença de Huntington, coreia de Huntington

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

doença falciforme, drepanocitose

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

distrofia, distrofia muscular