Salute e Malattia - Disturbi genetici

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

sindrome di Marfan

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

neurofibromatosi

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

sindrome di Noonan

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

sindrome di Prader-Willi

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

sindrome di Rett

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

malattia di 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

sindrome di Tourette

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

sindrome di Angelman

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

spondilite anchilosante

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

Sindrome di Apert

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

malattia di 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

iperplasia surrenalica congenita

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

fibrosi cistica

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

sindrome di Down

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

sindrome di 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

malattia di Fabry

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

sindrome dell'X fragile

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

emofilia

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

emocromatosi

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

sindrome di Klinefelter

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

sindrome di Turner

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

malattia di 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

sindrome di Williams

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

malattia di Huntington

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

malattia delle cellule falciformi

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

distrofia