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Marfan syndrome
/mˈɑːɹfən sˈɪndɹoʊm/
noun
a 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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neurofibromatosis
/ˌnʊɹoʊfaɪˌbɹoʊməˈtoʊsɪs/
noun
autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
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Noonan syndrome
/nˈuːnən sˈɪndɹoʊm/
noun
genetic 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/
noun
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
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Rett syndrome
/ɹˈɛt sˈɪndɹoʊm/
noun
a 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/
noun
a 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/
noun
an inherited form of anemia caused by faulty synthesis of hemoglobin
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tourette's syndrome
/tʊɹˈɛts sˈɪndɹoʊm/
noun
neurological 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/
noun
the congenital absence of pigmentation in the eyes and skin and hair
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Angelman syndrome
/ˈeɪndʒəlmən sˈɪndɹoʊm/
noun
a 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/
noun
a chronic form of spondylitis primarily in males and marked by impaired mobility of the spine; sometimes leads to ankylosis
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Apert syndrome
/ˈæpət sˈɪndɹoʊm/
noun
a 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/
noun
a 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/
noun
a 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/
noun
the 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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down syndrome
/dˌaʊn sˈɪndɹoʊm/
noun
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
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Ehlers Danlos syndrome
/ˈeɪlɚz dˈænloʊz sˈɪndɹoʊm/
noun
a 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/
noun
a 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/
noun
a 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/
noun
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
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hemochromatosis
/hˌiːməkɹˌoʊmɐtˈoʊsɪs/
noun
pathology 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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klinefelter syndrome
/klˈaɪnfɛltɚ sˈɪndɹoʊm/
noun
syndrome 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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turner's syndrome
/tˈɜːnɚz sˈɪndɹoʊm/
noun
a 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/
noun
bleeding 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/
noun
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
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huntington's disease
/hˈʌntɪŋtənz dɪzˈiːz/
noun
hereditary disease; develops in adulthood and ends in dementia
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sickle-cell disease
/sˈɪkəlsˈɛl dɪzˈiːz/
noun
a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
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dystrophy
/ˈdɪstɹəfi/
noun
any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
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