Santé et Maladie - Maladies Génétiques

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

syndrome 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

syndrome de Noonan, noonisme

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

syndrome de Prader-Willi, syndrome de Prader et Willi

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

syndrome de Rett

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

maladie de Tay-Sachs, maladie de Tay-Sachs

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

thalassémie

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

syndrome de Tourette, touchette

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

albinisme

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

syndrome d'Angelman, syndrome d'Angelman (maladie génétique rare)

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

spondylarthrite ankylosante, spondylarthrite chronique

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

Syndrome d'Apert, Syndrome d'Apert (anomalies cranio-faciales)

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

maladie de Charcot-Marie-Tooth, maladie de Charcot-Marie-Tooth (CMT)

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

hyperplasie congénitale des surrénales, maladie des surrénales congénitale

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

fibrose kystique, cystic fibrose

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

syndrome de Down, trisomie 21

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

syndrome d'Ehlers-Danlos, maladie d'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

maladie de Fabry, fabryose

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

syndrome de l'X fragile, X fragile syndrome

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

hémophilie

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

hémochromatose

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

syndrome de Klinefelter, syndrome de Klinefelter (maladie génétique)

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

syndrome de Turner, syndrome de Turner (affection génétique)

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

maladie de von Willebrand, déficit en facteur 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

syndrome de Williams

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

maladie de Huntington, chorée de Huntington

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

maladie des cellules falciformes, drépanocytose

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

dystrophie, dystrophie musculaire