Marfan syndrome
/mˈɑːɹfən sˈɪndɹoʊm/
nouna genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
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Examples
1. Other conditions include spondylolisthesis, in which a vertebrae slips out of its normal position, or conditions like Ehlers-Danlos syndrome and Marfan syndrome, where bones and connective tissues overgrow, causing spinal instability.
2. As for diagnosis, A person is diagnosed with Marfan syndrome if they have clinical features of Marfan syndrome like aortic disease, a dislocated lens, family history, and FBN1 mutations.
neurofibromatosis
/ˌnʊɹoʊfaɪˌbɹoʊməˈtoʊsɪs/
nounautosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
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1. As a result, older fathers carry increased risk of children with schizophrenia, autism, cancer a form of dwarfism, neurofibromatosis, and even skull and facial abnormalities.
2. Neurofibromatosis Every time I leave my house I brace myself for comments.
3. When my daughter was born, I was extremely relieved that she didn't inherit neurofibromatosis from me.
4. #7 Neurofibromatosis Once again, we have entered a road that is less traveled by.
5. Neurofibromatosis is a genetic disorder that affects your nervous system.
Noonan syndrome
/nˈuːnən sˈɪndɹoʊm/
noungenetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
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Prader–Willi syndrome
/pɹˈeɪdɚ wˈɪli sˈɪndɹoʊm/
nouna genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15
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Rett syndrome
/ɹˈɛt sˈɪndɹoʊm/
nouna genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
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tay-sachs disease
/tˈeɪsˈæks dɪzˈiːz/
nouna hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
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thalassaemia
/θˌælɐsˈiːmiə/
nounan inherited form of anemia caused by faulty synthesis of hemoglobin
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tourette's syndrome
/tʊɹˈɛts sˈɪndɹoʊm/
nounneurological disorder characterized by facial grimaces and tics and movements of the upper body and grunts and shouts and coprolalia
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albinism
/ˈælbɪnˌɪzəm/
nounthe congenital absence of pigmentation in the eyes and skin and hair
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Examples
1. In Tanzania, at least 75 people with albinism have been killed since 2000.
2. Oculocutaneous albinism affects your eyes, hair, and skin.
3. Albinism doesn't just affect the eyes.
4. Unlike albinism it doesn't lead to the total absence of color.
5. Albinism is a gene that causes lack of pigment in hair, skin, and eyes.
Angelman syndrome
/ˈeɪndʒəlmən sˈɪndɹoʊm/
nouna rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
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ankylosing spondylitis
/ˈæŋkɪlˌoʊzɪŋ spˌɑːndɪlˈaɪɾɪs/
nouna chronic form of spondylitis primarily in males and marked by impaired mobility of the spine; sometimes leads to ankylosis
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Examples
1. I was diagnosed over the summer with something called Ankylosing Spondylitis.
Apert syndrome
/ˈæpət sˈɪndɹoʊm/
nouna genetic disorder with craniofacial abnormalities, fused fingers/toes, and skeletal issues due to FGFR2 gene mutations
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charcot-marie-tooth disease
/tʃˈɑːɹkɑːtmɐɹˈiːtˈuːθ dɪzˈiːz/
nouna form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant
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congenital adrenal hyperplasia
/kəndʒˈɛnɪɾəl ɐdɹˈiːnəl hˌaɪpɚplˈeɪʒə/
nouna genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
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cystic fibrosis
/sˈɪstɪk fɪbɹˈoʊsɪs/
nounthe most common hereditary disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
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1. but the more I started thinking about it and the more I started thinking about you know how do I explain to Sydney one day how are you content in Cystic Fibrosis how do I explain to the person who doesn't have a job how are you don't just it's not being content with it just be content in it
down syndrome
/dˌaʊn sˈɪndɹoʊm/
nouna congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
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Examples
1. The patient has Down Syndrome.
2. Now, with Down Syndrome or trisomy 21, a process called nondisjunction accounts for about 95% of cases.
3. I'm a DSP, I take care of people who have autism and Down Syndrome.
4. While touring, Rachel saw a baby with Down Syndrome and fell in love.
5. With something like Down Syndrome, it's Trisomy 22, so, sorry,
Ehlers Danlos syndrome
/ˈeɪlɚz dˈænloʊz sˈɪndɹoʊm/
nouna group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
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Fabry disease
/fˈæbɹi dɪzˈiːz/
nouna rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
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fragile X syndrome
/fɹˈædʒəl ˈɛks sˈɪndɹoʊm/
nouna genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
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hemophilia
/ˌhiməˈfiɫiə/
nouna mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
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Examples
1. Their political struggles were only intensified by personal turmoil: Alexei, the heir to the throne, had a life-threatening blood disease called hemophilia.
2. Today, we know that the doctors had prescribed aspirin, a drug that worsens hemophilia.
3. He was born with hemophilia, which is a condition that prevents blood from clotting.
4. Did she have a hemophilia issue?
5. It might be for treating long term disorders like hemophilia where you're deficient in factor 8, a protein in the blood and you need to have injections of factor 8 continuously.
hemochromatosis
/hˌiːməkɹˌoʊmɐtˈoʊsɪs/
nounpathology in which iron accumulates in the tissues; characterized by bronzed skin and enlarged liver and diabetes mellitus and abnormalities of the pancreas and the joints
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Examples
1. For example, hemochromatosis is a condition where unusually high amounts of iron is absorbed.
2. An example of secondary hemochromatosis is through frequent blood transfusions.
3. For example, treating hemochromatosis by removing excess iron.
4. Hemochromatosis is a condition that develops if there is too much iron.
5. It is an ideal choice for hemochromatosis patients.
klinefelter syndrome
/klˈaɪnfɛltɚ sˈɪndɹoʊm/
nounsyndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male
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Examples
1. You see, the woman in question, actress and model Caroline Cossey, born Barry Kenneth Cossey, was born with something known as Klinefelter Syndrome, which means she has an XXY chromosome pattern with 47 chromosomes, instead of 46.
2. Most with this condition are clearly male and identify as such, but a small percentage seem to be female, and thus typical treatment for Klinefelter Syndrome, including being given testosterone starting during puberty, may be damaging psychologically as it would make the person’s body more male-like, when in fact they were female.
turner's syndrome
/tˈɜːnɚz sˈɪndɹoʊm/
nouna chromosomal disorder in females who have only one X chromosome; marked by dwarfism and heart abnormalities and underdeveloped sex organs
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Von Willebrand disease
/vˈɑːn wˈɪlɪbɹˌænd dɪzˈiːz/
nounbleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
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williams syndrome
/wˈɪljəmz sˈɪndɹoʊm/
nouna rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabulary
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huntington's disease
/hˈʌntɪŋtənz dɪzˈiːz/
nounhereditary disease; develops in adulthood and ends in dementia
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sickle-cell disease
/sˈɪkəlsˈɛl dɪzˈiːz/
nouna congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
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dystrophy
/ˈdɪstɹəfi/
nounany of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
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Examples
1. So many she has Muscular dystrophy you made pointment.
2. Duchenne muscular dystrophy is terrible.
3. Muscular dystrophy is actually a group of disorders, all of which are caused by genetic mutations.
4. I like muscular dystrophy.
5. - I wanna say muscular dystrophy.