Salud y Enfermedad - Trastornos genéticos
Aquí aprenderás algunas palabras en inglés relacionadas con trastornos genéticos como "albinismo", "hemofilia" y "distrofia".
Revisión
Tarjetas de memoria
Ortografía
Cuestionario
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, enfermedad de Marfan
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
neurofibromatosis
La monitorización regular es esencial para detectar y manejar las posibles complicaciones de la neurofibromatosis.
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
síndrome de Noonan, trastorno genético de 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
síndrome de Prader-Willi, enfermedad de Prader-Willi
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
síndrome de Rett, enfermedad de Rett
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
la enfermedad de Tay-Sachs, la gangliosidosis GM2
El diagnóstico de la enfermedad de Tay-Sachs a menudo se confirma mediante pruebas genéticas.
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
talasemia, anemia mediterránea
El monitoreo regular previene la sobrecarga de hierro, una complicación común de la talasemia.
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
síndrome de Tourette, trastorno de Tourette
El síndrome de Tourette a menudo se asocia con otras afecciones como el TDAH.
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
Aunque no hay cura para el albinismo, las ayudas visuales y la protección solar pueden ayudar a manejar los desafíos asociados.
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
síndrome de Angelman, enfermedad de Angelman
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
síndrome de Apert, enfermedad de Apert
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
la enfermedad de Charcot-Marie-Tooth, la neuropatía sensitivo-motora hereditaria
La investigación está en curso para comprender la base genética de la enfermedad 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 suprarrenal congénita, hiperplasia adrenal congénita
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
fibrosis quística, mucoviscidosis
Las personas con fibrosis quística corren el riesgo de desarrollar complicaciones como la diabetes y la enfermedad hepática.
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, trisomía 21
Las personas con síndrome de Down a menudo llevan vidas satisfactorias y pueden participar en diversas actividades.
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, enfermedad 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
enfermedad de Fabry, trastorno de Fabry
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
síndrome del X frágil, síndrome del cromosoma 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
hemocromatosis
El diagnóstico de hemocromatosis implica análisis de sangre y pruebas genéticas.
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
síndrome de Klinefelter
El síndrome de Klinefelter generalmente no se identifica hasta la pubertad o la edad adulta.
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
El síndrome de Turner es causado por la ausencia parcial o total de uno de los cromosomas X.
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, enfermedad de Williams
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
la enfermedad de Huntington, el corea de Huntington
Las personas con enfermedad de Huntington pueden requerir terapia física y asesoramiento.
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
anemia falciforme, enfermedad de células falciformes
El cuidado de apoyo es esencial para las personas con anemia falciforme.
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
distrofia
Los problemas de visión de Emily estaban relacionados con la distrofia ocular.
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
enfermedad de von Willebrand, deficiencia del factor von Willebrand
Los síntomas de la enfermedad de von Willebrand incluyen sangrado menstrual abundante y moretones fáciles.
