Tuesday, February 14, 2012
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Birth Defects Learning Center

 

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.More »
Ito Syndrome

Ito Syndrome

Incontinentia pigmenti achromians is a rare birth defect that causes unusual patches of light-colored (hypopigmented)...More »
Hydrocephalus

Hydrocephalus

Hydrocephalus is a build up of fluid inside the skull, leading to brain swelling. Hydrocephalus means "water on the...More »
Clubfoot

Clubfoot

Clubfoot is when the foot turns inward and downward. It is a congenital condition, which means it is present at birth.More »

Russell Silver Syndrome

Russell-Silver syndrome is a disorder present at birth that involves poor growth, low birth weight, short height, and...More »

Down Syndrome

Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.More »
Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.More »
Aicardi Syndrome

Aicardi Syndrome

Aicardi Syndrome is a rare inherited (genetic) disorder in which the structure that connects the two sides of the brain...More »

Aase Syndrome

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.More »

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...More »
G6PD Deficiency

G6PD Deficiency

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when...More »
Congenital Hip Dislocation

Congenital Hip Dislocation

Developmental dysplasia of the hip (DDH) is a dislocation of the hip joint that is present at birth. The condition is...More »

Hirschsprung Disease

Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a...More »

Maple Syrup Urine Disease

Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break...More »
Meckel's Diverticulum

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...More »
Medullary Cystic Disease

Medullary Cystic Disease

Medullary cystic kidney disease (MCKD) is a hereditary disorder in which cysts in the center of each kidney cause the...More »
Congenital Heart Defects

Congenital Heart Defects

Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development...More »
Albinism

Albinism

Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.More »
 
 

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