Maroteaux-Le-Merrer-Bensahel syndrome is the name used for carpotarsal osteochondromatosis (CTOC), an ultra-rare primary bone dysplasia marked by abnormal bone ...

Carpotarsal osteochondromatosis (COT) is a very rare bone growth disorder. Extra bone-and-cartilage lumps (called osteochondromas) form around the small joints ...

Acrocephalopolysyndactyly type 2 is the medical name for Carpenter syndrome. It is a rare, inherited condition present from birth. Two body systems are ...

Carpenter syndrome is a rare genetic condition. It affects how the skull, face, fingers, toes, and some internal organs form before birth. The skull bones ...

Paraganglioma is a rare tumor that grows from special nerve-related cells called paraganglia. These cells sit beside blood vessels and nerves throughout the ...

A neoplasm of the carotid body (also called a carotid body tumor, a type of head-and-neck paraganglioma) is a growth that starts in the carotid body, a tiny ...

Chemodectomas (also called head & neck paragangliomas most commonly carotid body, jugulotympanic, vagal, or laryngeal tumors) are rare tumors that grow ...

A carotid body paraganglioma (CBP) is a slow-growing tumor that starts in the carotid body, a small sensor at the split of the carotid artery in the neck. The ...

Caroli syndrome is a rare birth (congenital) disorder of the bile ducts inside the liver. In this condition, the large bile ducts are abnormally wide (dilated) ...

Caroli disease is a rare, congenital (present from birth) condition of the bile ducts inside the liver. In this disorder, parts of the large intrahepatic bile ...

Carnosinemia is a very rare inherited metabolic disease. It happens when the body does not have enough of an enzyme called carnosinase. This enzyme normally ...

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare inherited disorder of fat breakdown (fatty-acid β-oxidation). The CACT protein sits in the ...

Lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency is a very severe, inherited energy-use problem that appears in the first days of life. ...

Late-onset Carnitine Palmitoyltransferase II (CPT II) Deficiency is an inherited problem in the way muscles burn long-chain fats for energy. The CPT2 gene ...

Infantile Carnitine Palmitoyltransferase II (CPT II) Deficiency is a rare, inherited problem with fat burning inside the mitochondria (the cell’s power plant). ...

Carnitine palmitoyltransferase II (CPT II) deficiency is a rare, inherited disorder of fat breakdown. Our muscles and other organs use fat as a major fuel, ...