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Birth defects are physical abnormalities that are present at birth; they are also called congenital abnormalities. More than 3,000 have been identified. |
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Achondroplasia
Achondroplasia is a disorder of bone growth that causes the most common type of growth hormone deficiency.
Ito Syndrome
Incontinentia pigmenti achromians is a rare birth defect that causes unusual patches of light-colored (hypopigmented) skin and possible neurological and skeletal problems. See also: Hypopigmentation
Incontinentia pigmenti achromians is a rare birth defect that causes unusual patches of light-colored (hypopigmented) skin and possible neurological and skeletal problems. See also: Hypopigmentation
Hydrocephalus
Hydrocephalus is a build up of fluid inside the skull, leading to brain swelling. Hydrocephalus means "water on the brain."
Hydrocephalus is a build up of fluid inside the skull, leading to brain swelling. Hydrocephalus means "water on the brain."
Clubfoot
Clubfoot is when the foot turns inward and downward. It is a congenital condition, which means it is present at birth.
Clubfoot is when the foot turns inward and downward. It is a congenital condition, which means it is present at birth.
Russell Silver Syndrome
Russell-Silver syndrome is a disorder present at birth that involves poor growth, low birth weight, short height, and differences in the size of the two sides of the body.
Down Syndrome
Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.
Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.
Aicardi Syndrome
Aicardi Syndrome is a rare inherited (genetic) disorder in which the structure that connects the two sides of the brain (corpus callosum) is partly or completely missing.
Aicardi Syndrome is a rare inherited (genetic) disorder in which the structure that connects the two sides of the brain (corpus callosum) is partly or completely missing.
Aase Syndrome
Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
Flat Foot
Pes planus is a condition in which the arch or instep of the foot collapses and comes in contact with the ground. In some individuals, this arch never develops while they are growing.
G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.
Congenital Hip Dislocation
Developmental dysplasia of the hip (DDH) is a dislocation of the hip joint that is present at birth. The condition is found in babies or young children.
Developmental dysplasia of the hip (DDH) is a dislocation of the hip joint that is present at birth. The condition is found in babies or young children.
Hirschsprung Disease
Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition, which means it is present from birth.
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins.
Meckel's Diverticulum
A Meckel's diverticulum is a pouch on the wall of the lower part of the small bowel that is present at birth (congenital. The diverticulum may contain tissue from the stomach or pancreas.
A Meckel's diverticulum is a pouch on the wall of the lower part of the small bowel that is present at birth (congenital. The diverticulum may contain tissue from the stomach or pancreas.
Medullary Cystic Disease
Medullary cystic kidney disease (MCKD) is a hereditary disorder in which cysts in the center of each kidney cause the kidneys to gradually lose their ability to work.
Medullary cystic kidney disease (MCKD) is a hereditary disorder in which cysts in the center of each kidney cause the kidneys to gradually lose their ability to work.
Congenital Heart Defects
Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development before birth. Congenital means present at birth.
Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development before birth. Congenital means present at birth.
Albinism
Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.
Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes. Topics
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