List of congenital disorders

List of Congenital Disorders

A congenital disorder is a medical condition that is present at or before birth. These conditions, also known as birth defects, can be acquired during the fetal stage of development or from the genetic makeup of the parents.

A

Achondroplasia (pronounced: ah-kon-droh-PLAY-zee-uh) is a type of short-limbed dwarfism. The word "achondroplasia" can be broken down to its Greek roots to understand its etymology: "a-" meaning without, "chondro-" referring to cartilage, and "-plasia" meaning formation. Related terms include dwarfism and short stature.

B

Biliary atresia (pronounced: bil-ee-air-ee uh-TREE-zhuh) is a rare disease of the liver and bile ducts that occurs in infants. The term "biliary atresia" comes from "biliary" referring to the bile, a substance produced by the liver to help digest fats, and "atresia" meaning closure, in this case referring to the closure of the bile ducts. Related terms include liver disease and jaundice.

C

Cystic fibrosis (pronounced: SIS-tik fy-BROH-sis) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. The term "cystic fibrosis" comes from the cysts that form in the pancreas and the fibrous tissue that develops in the lungs. Related terms include genetic disorder and lung disease.

D

Down syndrome (pronounced: down SIN-drohm) is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. The syndrome is named after John Langdon Down, the British doctor who first fully described the syndrome in 1866. Related terms include chromosomal disorder and intellectual disability.

E

Ehlers-Danlos syndrome (pronounced: AY-lurz DAN-lohz SIN-drohm) is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The syndrome is named after two doctors, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who identified it at the turn of the 20th century. Related terms include connective tissue disorder and joint hypermobility.

External links

• Medical encyclopedia article on List of congenital disorders
• Wikipedia's article - List of congenital disorders

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