Cardiomyopathy - hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
Cardiomyopathy, hypogonadism, collagenoma syndrome: A rare inherited condition characterized primarily by skin nodules. The skin nodules may be associated with organ system involvement resulting in a variety of other symptoms.
Cardiomyopathy - hypogonadism - metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism
Cardiomyopathy - spherocytosis: A rare disorder characterized by the association of spherocytosis with heart muscle disease. Spherocytosis is a red blood cell disorder where the red blood cells have abnormal membranes which gives them a spherical shape and makes them weak resulting in their premature death
Familial dilated cardiomyopathy: A rare inherited heart muscle condition where one or both heart ventricles are dilated or have impaired contractility. The heart becomes unable to pump sufficient blood around the body.
Cardiomyopathy, fatal fetal, due to myocardial calcification: A rare syndrome characterized by heart muscle disease caused by calcium deposits in the heart muscle. The disorder causes fetal death.
Cardiomyopathy, infantile histiocytoid: A rare form of heart muscle disease that occurs during infancy and is caused by the presence of abnormal cells in the heart muscle
Cardiomyopathy, X-linked, fatal infantile: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The condition occurs during infancy and results in death.
A failure of the muscular between the esophagus and the stomach (cardiac sphincter) to open thus preventing food passing through into the stomach. This can cause the food to back up into the esophagus. The condition is also known as achalasia.
Carnevale-Canun-Mendoza syndrome: A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems.
Carnevale-Hernandez-Castillo syndrome: An extremely rare disorder characterized by missing digits or parts of digits and a thumb that has three bones like a finger instead of the normal two.
Carnevale-Canun-Mendoza syndrome: A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems.
Carney syndrome: A very rare syndrome characterized by spotty pigmentation on the skin and the development of multiple benign tumors (myxoma) that can occur just about anywhere in the body but mainly in the skin, breast and heart and endocrine glands such as the thyroid and pituitary gland. The symptoms are highly variable depending on the location, size and number of tumors. Endocrine gland tumors can affect hormone production and hence result in a range of symptoms.
Carnitine palmitoyl transferase I (CPT I) deficiency, also called carnitine palmitoyltransferase 1A (CPT 1A) deficiency, CPT deficiency, hepatic, type I, or liver form of carnitine palmitoyltransferase deficiency, is a very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet.
Source: Genetics home reference
Carnitine palmitoyl transferase II deficiency (CPT-II) is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
Carnitine-acylcarnitine translocase deficiency: A very rare inherited metabolic disorder where long-chain fatty acids can't be metabolized properly because the compound needed to transport it is faulty. Ultimately this prevents certain fats (long-chain acylcarnitine) being converted to energy and results in a build up of the fat which is harmful to body organs and tissues.
Carnosinase deficiency: A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures.
Carnosinemia: Excessive amounts of carnisine in the blood.
Caroli disease is a rare inherited disorder characterized by dilation of the intrahepatic bile ducts. There are two types of Caroli disease, the most common being the simple, or isolated case where the bile ducts are widened by ectasia. The second, more complex, cause is commonly known as Caroli Syndrome. This complex form is also linked with portal hypertension and congenital hepatic fibrosis. The differences between the causes of the two cases have not yet been discovered. Caroli disease is also associated with liver failure and polycystic kidney disease.
Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many choledochal cyst derivatives.
Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner.
Main name of condition: Thieffry and Sorrell Dejerine syndrome Other names or spellings for Thieffry and Sorrell Dejerine syndrome: Thieffry Kohler syndrome, osteolysis hereditary, osteolysis idiopathic multicentric, hyperhydroxyprolinemia-osteolysis, osteolysis hereditary-carpal bones-nephropathy, Carpo tarsal osteolysis recessive Thieffry and Sorrell Dejerine syndrome: A rare inherited syndrome characterized by kidney problems and progressive destruction of the wrist and ankle bones which may spread to adjoining bones.
Carpotarsal osteochondromatosis: A rare disorder characterized by a painless swelling in the ankles and wrists which restricts their range of motion. The swelling is caused by abnormal growths on the wrist and ankle bones. The number of joints involved is variable.
Carrington syndrome (medical condition): A rare disorder where eosinophils (a type of white blood cell) accumulate in the lungs and cause problems. The symptoms occur gradually over a period of weeks or even months
Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
Cartilage Hair Hypoplasia is a rare syndrome affecting the immune system and causing skeletal dysplasia. It is also known as Metaphyseal Chondrodysplasia-McKusick Type . CHH is a recessive gene which means that both parents would have to be carriers of the gene.
Cartilaginous neoplasms: Tumors made up of cartilage tissue. The tumors may be benign or malignant and the symptoms will depend on the location and size of the tumors. The tumors can form on parts of the body such as the arm and leg bones or even in the pharynx. The tumors may cause no symptoms in some cases and are only discovered incidentally.
Cartwright-Nelson-Fryns syndrome: A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities.