Search Results
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 … in males and females. The 23rd pair determines a person's sex with males having an X and Y chromosome and females … are usually seen after the baby is born. The mother's pregnancy and the baby's birth history are not unusual. …
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 - … du chat syndrome. Additionally, analysis of the individual's chromosomes may be performed. The missing portion …
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 … … The diagnosis of Noonan syndrome is based on the person's clinical symptoms and signs. The specialist examines the …
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. … … X syndrome is a genetic condition that affects a person’s development, in particular their ability to learn and their …
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 … only to determine the correct dose of the medicine. NIH's National Human Genome Research Institute (NHGRI) … Genomics and Metabolic Genetics Branch and the study's corresponding author. Dr. Biesecker and his colleagues …
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 … Paul Kruszka, M.D., M.P.H., a medical geneticist in NHGRI's Medical Genetics Branch . Although from diverse … Institute for Pediatric Surgical Innovation at Children's National Health System in Washington, D.C., developed the …
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 … Utah," said National Institutes of Health Director Francis S. Collins, M.D., Ph.D., a co-author of the study. ( See … (NINDS), the NIH Clinical Center, the Boston Children's Hospital affiliated with Harvard University , Icahn School …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… Acquired Immunodeficiency Syndrome (AIDS) … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. … RNA (Ribonucleic Acid), Retrovirus Virus … AIDS … AIDS, though drugs can slow down and stabilize the disease's progress. … AIDS is a collection of symptoms known as …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Muenke, M.D., atlas co-creator and chief of NHGRI's Medical Genetics Branch . "Once they have an accurate … families." The first disorders added to the atlas are Down syndrome and 22q11.2 deletion syndrome. Down syndrome is the … people and will be searchable by phenotype (a person's traits), syndrome, continental region of residence and …