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Birth Defects Learning Center

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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 dwarfism.
Ito Syndrome
Incontinentia pigmenti achromians is a rare birth defect that causes unusual patches of light-colored (hypopigmented)...
Hydrocephalus
Hydrocephalus is a build up of fluid inside the skull, leading to brain swelling. Hydrocephalus means "water on the...
Clubfoot
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...
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.
Aicardi Syndrome
Aicardi Syndrome is a rare inherited (genetic) disorder in which the structure that connects the two sides of the brain...
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...
G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when...
Congenital Hip Dislocation
Developmental dysplasia of the hip (DDH) is a dislocation of the hip joint that is present at birth. The condition is...
Hirschsprung Disease
Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a...
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break...
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...
Medullary Cystic Disease
Medullary cystic kidney disease (MCKD) is a hereditary disorder in which cysts in the center of each kidney cause the...
Congenital Heart Defects
Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development...
Albinism
Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.

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