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Congenital Contractural Arachnodactyly is a genetic disorder that affects the formation of connective tissue, causing the characteristic contractures (fixed, abnormal positions and reduced mobility of the joints and long fingers and toes). The gene that causes CCA is fibrillin-2 (FBN2), which is on chromosome 5. Fibrillin-2 is important in the formation of elastic fibers, which are crucial to th...

Congenital Cystic Adenomatoid Malformation (CCAM) occurs when a portion of a baby’s lung fails to develop normally prior to birth. Instead, a benign, non-cancerous mass forms which is composed of fluid-filled sacs. This mass cannot function as normal lung tissue and breathing problems arise. There are three types of CCAMs. Type 1, the most common, is characterized by large and small cysts. Type 2 ...

Congenital Diaphragmatic Hernia (CDH) is a life-threatening illness that occurs when a hole in the diaphragm, the flat muscle that separates the chest from the abdomen, fails to close before the baby is born. This birth defect develops in the first trimester, usually on the left side of the diaphragm. When a baby has a hole in its diaphragm, the organs of the abdomen, including the stomach, intest...

Congenital fibrosarcoma (CFS, also called infantile fibrosarcoma) is a malignant tumor of the fibroblasts, the cells that create fibrous tissues. CFS is found as a growing mass at birth, or shortly after. This form of fibrosarcoma, while malignant (meaning that it spreads), tends to be slower-growing and more benign than fibrosarcomas in older children, which more resembles the type found in adu...

Congenital hepatic fibrosis (CHF) is a rare, hereditary disorder, first described in 1856, which is characterized by fibrosis (scarring) of the liver and irregularly shaped bile ducts. Bile ducts are essential to move bile, which is necessary for the digestion and absorption of fats, from the liver to the small intestines. The scarring and irregularly shaped bile ducts may eventually lead to live...

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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All