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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in … including cleft palate, heart defects, a characteristic facial appearance and learning problems, healthcare providers …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… of Health, and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in … an average age of 8 years; almost half were female. Using facial analysis software and clinical criteria, the … facial analysis, facial analysis software, facial recognition, Atlas of Human Malformation Syndromes in Diverse …
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 characteristics, short stature, heart defects present … … Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present … syndrome may include the following: A characteristic facial appearance. Short stature. Heart defect present at …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Asian and Latin American countries, both clinically and by facial analysis technology, developed by Children's National … symptoms include intellectual disability and distinctive facial features, including puffiness around the eyes, a short … in Diverse Populations, diverse populations, facial recognition … NHGRI researchers and their international …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… myopathy (inherited muscle disorder) characterized by facial weakness, a small or retracted chin, a cleft palate … syndrome, another very rare disorder characterized by facial paralysis Normal myoblasts (early muscle cells with a … characteristics of Moebius syndrome and other congenital facial weakness disorders. Toward this end, the consortium …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… birth defect of the brain, which often can also affect facial features, including closely spaced eyes, small head … birth defect of the brain, which often can also affect facial features, including closely spaced eyes, small head … is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… didn't know what caused their children to have weak facial muscles, cleft palates and curvature of the spine. Nor … children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya set such a good example," …
The Genomics Landscape
In the August 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Marcus G. Hodges as the new Intramural Training Office Director.
… the colloquium webpage .  All the best,  … Approximating facial expression effects on diagnostic … the biases and limitations of these technologies. Facial analysis is a type of AI that can be used to study some genetic conditions that have characteristic facial features. The authors of this paper aimed to study …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… 4 motor neurons and cause dominant hereditary congenital facial paresis Tenney et al. Nature Genetics . 2023 Jun;55, 1149–1163 PMC10335940  Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in which people have no or limited facial movements. People with this condition often have …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… been around for centuries, but has only gained scientific recognition and support in the past 30 years. … …