Search Results
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 … delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that involves unusual facial …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They … of the American Journal of Medical Genetics . … While Noonan Syndrome is relatively common -- affecting between 1 …
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 …
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, …
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 …