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Abnormalities |
BCKD deficiency; Brain Disorders, Inborn Genetic; Branched-chain alpha-keto acid dehydrogenase deficiency; Branched-Chai... | |
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A birth defect is an abnormality of structure, function or metabolism (body chemistry) present at birth that results in physical or mental disability, or is fatal. Several thousand different birth defects have been identified. Birth defects are the leading cause of death in the first year of life. 
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Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. From early infancy, the condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated. Maple syrup ur...
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Birth Defects as related to Genetic Brain Disorders
- MedlinePlus: Genetics/Birth Defects Topics
Birth Defects. Blood Coagulation Disorders see Hemophilia ... Niemann-Pick Disease see Genetic Brain Disorders. Open Spine see Spina Bifida ...
- Genetic Disorders - MedlinePlus
Genetic Brain Disorders. Genetic Counseling. Genetic Testing ... Genetics/Birth Defects. Go Local. Services and providers for Genetic Disorders in the U.S. ...
- NIH - Genetic Brain Disorders
Official website of the National Institutes of Health (NIH) ... Home > Health Information > Genetics/Birth Defects. Genetic Brain Disorders. Quick Links ...
- NIH - Genetics/Birth Defects
Birth Defects. Brain Malformations see Head and Brain Malformations ... Genetic Disorders. Genetic Testing/Counseling. Head and Brain Malformations. Hemochromatosis ...
- Genetics vs. Birth Defects
Genetics and birth defects including amniocentesis, genetic counseling, DNA, fetal alcohol syndrome, cleft palate, ... (Genetic Brain Disorders) Marfan ...
- Introduction: Birth Defects: Merck Manual Home Edition
... brain or spinal cord known as neural tube defects (see Genetic Disorders ... baby with a birth defect (see Genetic Disorders Detection: Prenatal Diagnostic ...
- Birth Defects
Birth defects can be caused by genetic, environmental, or unknown factors. ... brain damage during the last trimester of pregnancy or around the time of birth ...
- Amniocentesis - March of Dimes
... or, far more likely, rule out certain birth defects and genetic disorders. ... defect or certain birth defects involving the brain or spinal cord (neural tube ...
- Birth Defects - March of Dimes
Neural tube defects (serious birth defects of the brain and spinal cord, ... Most disorders of body chemistry are recessive genetic diseases. ...
- Birth & Genetic Disorders Health Center
Answers to your questions about birth and genetic disorders! ... Scoliosis may be present from birth or occur in conjunction with other defects or conditions. ...
- IDPH - Center for Congenital and Inherited Disorders
Neural tube defects are birth defects of the brain and the spinal cord. ... Arthro-Ophthalmopathy) is an inherited autosomal dominant genetic disorder. ...
- Common Birth Defects/Congenital Disorders – Structural - MedHunters
... are born with a serious birth defect of genetic or partially genetic origin. ... tube defects include defects of the spine (spina bifida) and brain (anencephaly ...
- Genetic Conditions / Rare Conditions Information Site
Information on genetic conditions and birth defects for professionals, educators, ... Brain Conditions / Disorders. Branchio-Oto-Renal (BOR) syndrome. Canavan ...
- Congenital disorder - Psychology Wiki
Birth defects involving the brain are the largest group at 10 per 1000 live ... About 25% of birth defects result from genetic abnormalities. ...
- Birth Defects Causes, Symptoms,Diagnosis, and Prevention on MedicineNet.com
... birth defects include ingestion of drugs or alcohol during pregnancy, genetic, ... Degenerative disorders--are conditions that might not be obvious at birth, but ...
- Brain and Spinal Cord Defects: Birth Defects: Merck Manual Home Edition
... tube defect in the fetus (see Genetic Disorders Detection: Neural Tube Defects) ... such as a birth defect, bleeding within the brain (often associated with ...
- ACOG Education Pamphlet AP146 -- Birth Defects
These are defects that result when the coverings over the spinal cord or brain do not ... have any other genetic diseases, chromosomal disorders, or birth defects? ...
- Birth Defects Services for Lowcountry Region: Go Local-SC
Genetic Testing. Neural Tube Defects. Fetal Alcohol Syndrome. Facial Injuries and Disorders ... Genetic Brain Disorders. All Genetics/Birth Defects Topics ...
- Birth Defects and Brain Development - The developing fetus, Anencephaly ...
Birth defects of the brain are a group of disorders that result ... Genetic disorders. Phenylketonuria (PKU) Rubella. Spina bifida. Teratogens. Toxoplasmosis ...
- Scientists Discover Genetic Defect Responsible For Devastating Brain ...
... genetic cause for a rare form of microcephaly, a devastating brain disorder that ... Birth Defects. Infant's Health. Mind & Brain. Child Development. Brain Injury ...
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