Sağlık ve Hastalık - Genetik Hastalıklar
Burada "albinizm", "hemofili" ve "distrofi" gibi genetik bozukluklarla ilgili bazı İngilizce kelimeleri öğreneceksiniz.
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a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
![Marfan sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Marfan sendromu
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
![nörofibromatoz](https://api.langeek.co/v1/assets/flags/tr.png)
nörofibromatoz
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
![Noonan sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Noonan sendromu
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 sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Prader Willi sendromu
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
![Rett sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Rett sendromu
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
![Tay-Sachs hastalığı](https://api.langeek.co/v1/assets/flags/tr.png)
Tay-Sachs hastalığı
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
![talasemi](https://api.langeek.co/v1/assets/flags/tr.png)
talasemi
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
![Tourette sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Tourette sendromu
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
![albinizm](https://api.langeek.co/v1/assets/flags/tr.png)
albinizm
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
![Angelman sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Angelman sendromu
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
![ankilozan spondilit](https://api.langeek.co/v1/assets/flags/tr.png)
ankilozan spondilit
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
![Apert sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Apert sendromu
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
![Charcot-Marie-Tooth hastalığı](https://api.langeek.co/v1/assets/flags/tr.png)
Charcot-Marie-Tooth hastalığı
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
![konjenital adrenal hiperplazi](https://api.langeek.co/v1/assets/flags/tr.png)
konjenital adrenal hiperplazi
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
![kistik fibrozis](https://api.langeek.co/v1/assets/flags/tr.png)
kistik fibrozis
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
![down sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
down sendromu
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
![Ehlers-Danlos sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Ehlers-Danlos sendromu
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
![Fabry hastalığı](https://api.langeek.co/v1/assets/flags/tr.png)
Fabry hastalığı
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
![Frajil X sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Frajil X sendromu
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
![hemofili](https://api.langeek.co/v1/assets/flags/tr.png)
hemofili
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
![hemokromatozis](https://api.langeek.co/v1/assets/flags/tr.png)
hemokromatozis
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
![Klinefelter sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Klinefelter sendromu
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
![Turner sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Turner sendromu
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
![von Willebrant hastalığı](https://api.langeek.co/v1/assets/flags/tr.png)
von Willebrant hastalığı
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
![Williams sendromu](https://api.langeek.co/v1/assets/flags/tr.png)
Williams sendromu
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
![Huntington hastalığı](https://api.langeek.co/v1/assets/flags/tr.png)
Huntington hastalığı
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
![orak hücreli anemi](https://api.langeek.co/v1/assets/flags/tr.png)
orak hücreli anemi
![LanGeek](/assets/logo/langeek-mono-small.png)