Search Results
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By adding …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with … and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… bleeding problems, developmental delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that … bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … the study. The researchers will add Noonan syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations , which they …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals. … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… hereditary. VCFS is characterized by a combination of medical problems that vary from child to child. These … problems include: cleft palate, or an opening in the roof of the mouth, and other differences in the palate; heart … heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some eye muscles to contract when … disorder the individual has. However, other conditions and syndromes have been found in association with DS. These include malformation of the skeleton, ears, eyes, kidneys and nervous …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … interventions and provide better medical care. "Human malformation syndromes appear different in different parts of … DiGeorge syndrome and Down syndrome are now part of the Atlas of Human Malformations in Diverse Populations ( …
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 abnormalities that tend to occur … Disease … A syndrome, as related to genetics, is a group of traits or conditions that tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … A syndrome is a collection …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower … 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. Having an extra number 21 chromosome …