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Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels … (clots in the arteries and veins). … Antiphospholipid syndrome (APS), also known as antiphospholipid antibody … tests detect antibodies based on their ability to slow down phospholipid-dependent clotting reactions. Most …
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 … There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of … located on chromosome number 11. Babies born with WAGR syndrome often have eye problems, and are at high risk for … certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the … material on the the p arm of chromosome 5. … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome is a disorder that involves unusual facial … and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that involves unusual facial … and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … … Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… of lesions and pain experienced by people with Proteus syndrome, a rare genomic disease. The drug, miransertib, was … the drug had a beneficial effect on symptoms of Proteus syndrome," said Leslie Biesecker, M.D., chief of the NHGRI … discovered the gene variant responsible for Proteus syndrome in 2011. "The results were so encouraging that we …
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 … the American Journal of Medical Genetics . … While Noonan Syndrome is relatively common -- affecting between 1 in 1,000 … percent). The researchers evaluated children with Noonan syndrome from 20 countries with an average age of 8 years; …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle … with CFZS have sometimes been misdiagnosed with Moebius syndrome, another very rare disorder characterized by facial … muscle cells) during myogenesis. In Carey-Fineman-Ziter syndrome, this cascade is disrupted because of a defect in …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and … This technology was also very accurate in diagnosing Down syndrome , according to a study published in December … rare but seen by many clinicians. DiGeorge syndrome and Down syndrome are now part of the Atlas of Human …