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Cherubism is a rare and harmless genetic condition characterized by painless swelling of the cheeks due to replacement of the bones that make up the lower part of the skull and jaw with fibrous tissue. The two bones affected are named the maxilla and the mandible. It is currently thought that this condition occurs when there is a change in a gene that affects the function of the cells that breakd...

Chondroectodermal dysplasia, or Ellis-van Creveld (EvC) syndrome, is a rare, inherited condition that affects the skeleton, hair, nails, and teeth. Children with EvC are born with disproportionate dwarfism (short limbs, particularly in the lower extremities furthest from the trunk), symmetric postaxial polydactyly (an additional finger next to the little finger), small chests, problems with hair,...

Chondrosarcoma is a malignant tumor that grows in bones, specifically arising in cartilage (the smooth connective tissue that coats the ends of bones and forms joints). Chondrosarcoma is the second most common type of primary bone cancer. (A primary bone cancer originates from bone rather than spreading to bone from another organ). Different kinds of chondrosarcoma include central, peripheral, d...

Chronic Granulomatous Disease (CGD) is a genetic disorder in which the immune system is not effective against a bacterium called Staphylococcus aureus (Staph) as well as some less common bacteria and fungi, such as Aspergillus, Pseudomonas, Serratia, and Burkholderia cepacia. Aspergillus and Burkholderia cepacia are now the most common organisms that cause problems for children with CGD. Normall...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disease affecting the nervous system. Patients experience progressive muscle weakness and loss of sensation due to demyelination of the nerves. Myelin sheaths wrap around nerves to insulate them, and they are necessary for efficient electrical conduction. Without the myelin sheaths, nerve conduction slows down. The muscles t...

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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