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Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They … to genetic services or genetic testing," said Maximilian Muenke, M.D. , atlas co-creator and chief of NHGRI's Medical … Human Malformation Syndromes in Diverse Populations, Max Muenke M.D. … NHGRI researchers and their collaborators, have …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some … Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in … information of diverse people with Williams-Beuren Syndrome to the atlas , healthcare providers will better … medical care. They assessed people with Williams-Beuren Syndrome from African, Asian and Latin American countries, …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or … and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… pregnancy.  From Left: Adebowale Adeyemo, M.D., Max Muenke, M.D., and Paul Kruszka, M.D., co-created the Atlas of … diagnose patients as early as possible," said Maximilian Muenke, M.D., atlas co-creator and chief of NHGRI's Medical … families." The first disorders added to the atlas are Down syndrome and 22q11.2 deletion syndrome. Down syndrome is the …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. … 800 to 1 in 1000 live born infants. … People who have Down syndrome have learning difficulties, mental disability, a … muscle tone (hypotonia) in infancy. Individuals with Down syndrome also have an increased risk for having heart …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual … racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter syndrome is a condition that occurs in men as a result of an … The most common symptom is infertility. … Klinefelter syndrome is a condition that occurs in men as a result of an … characteristics of their gender. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… Turner syndrome is a chromosomal condition that alters development in females. … Turner syndrome is a chromosomal condition that alters development … this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), …