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A birth defect is an abnormality present at birth.
… Birth Defect … A birth defect is an abnormality present at birth. … Congenital … abnormality present in a baby at birth. Birth defects can be caused by genetic factors, prenatal events … during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), …
Educational Resources
Congenital conditions are those present from birth.
… Congenital … Congenital conditions are those present from birth. … Birth Defects, Genetic Mutation, Newborn Screening, Genetics, …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and … characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… metabolic pathways and cause disorders such as cancer and birth defects. His laboratory focuses on identifying genetic … on the genetics of neural tube defects (NTDs) and other birth defects. NTDs and congenital heart defects are some of …
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
… of the brain. … Holoprosencephaly, Developmental Disorder, Birth Defect … Holoprosencephaly is a developmental disorder … Often the deformities cause babies to die before birth. In mild cases, babies are born with near-normal brain …
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.
… Holoprosencephaly is a relatively common birth defect of the brain, which often can also affect facial … clefts of the lip and roof of the mouth, as well as other birth defects. … Holoprosencephaly (HPE) is a relatively common …
Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
… number of fingers or toes. … Autosomal Dominant, Dominant, Birth Defect, Mutation, Syndrome … Polydactyly is a condition … or intellectual impairment, or it may occur as an isolated birth defect. Polydactyly can either be inherited or it can …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… Genomics is revolutionizing health assessments before birth. … Did you know that DNA sequencing now allows us to … about 50 percent of Down syndrome children have heart defects, NIPT can be helpful by giving notice to the … team, who may need to plan for surgery soon after birth. Parents can also begin to prepare for raising a child …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… most often among people of African ancestry. … Autosome, Birth Defect, Gene, Inherited, Mutation, Protein, Recessive … …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… is a rare disease characterized by accelerated aging. … Birth Defect, Cell, Gene Mutation, Nuclear Membrane, Nucleus, …