Diseases

Camptomelic syndrome long limb type

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and incomplete development of genitalia in males such that they appear to be females.

Camurati Engelmann disease- type 2

Camurati-Engelmann Disease (CED) is a form of dysplasia and a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. Patients typically have heavily-thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, sometimes leading to sensory deficits such as blindness, or deafness.

Camurati-Engelmann disease

Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, severe limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.

Canavan disease

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers.

Candidiasis familial chronic mucocutaneous- autosomal recessive

Chronic mucocutaneous candidiasis (CMC) refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial infections of the skin, mucous membranes, and nails with Candida organisms, usually Candida albicans. These disorders are confined to the cutaneous surface, with little propensity for systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic presentation of a spectrum of immunologic, endocrinologic, and autoimmune disorders.

CANOMAD syndrome

A rare syndrome characterized by a range of abnormalities caused by immune-mediated nerve demyelination. There is usually no loss of limb function associated with the disorder. The face, throat, mouth and eye symptoms (weakness of the muscles) usually come and go

Cantu syndrome

A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage

Capillary leak syndrome with monoclonal gammopathy

Capillary leak syndrome (sometimes systemic capillary leak syndrome or Clarkson syndrome) is a rare medical condition where the number and size of the pores in the capillaries are increased which leads to a leakage of fluid from the blood to the interstitial fluid, resulting in dangerously low blood pressure (hypotension), edema and multiple organ failure due to limited perfusion.

Carbamoyl phosphate synthase 1 deficiency

Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Carbamoyl Phosphate Synthase Deficiency

Ornithine transcarbamylase deficiency (OTCD), the most common of the urea cycle disorders, is a rare metabolic disorder, occurring in one out of every 80,000 births. OTC is a genetic disorder resulting in a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Carbon baby syndrome

Shaken baby syndrome is a group of signs and symptoms caused by severe brain injury due to violent shaking of an infant. Since an infant's neck muscles aren't strong enough to limit motion of the head, shaking causes the baby's brain to bounce back and forth within the skull. This may result in bruising, swelling and bleeding within the brain, which can lead to permanent, severe brain damage or even death. If you know or suspect an infant has been shaken, seek emergency medical care for the child.

Carcinoid syndrome

Carcinoid syndrome refers to the array of symptoms that occur secondary to carcinoid tumors. The syndrome includes flushing and diarrhea, and, less frequently, heart failure and bronchoconstriction. It is caused by endogenous secretion of mainly serotonin and kallikrein.

Carcinoid tumor

Carcinoid tumors are rare, slow-growing cancers that usually start in the lining of the digestive tract or in the lungs. Because they grow slowly and don't produce symptoms in the early stages, the average age of people diagnosed with digestive or lung carcinoids is about 60. In later stages the tumors sometimes produce hormones that can cause carcinoid syndrome. The syndrome causes flushing of the face and upper chest, diarrhea, and trouble breathing.

source: MedlinePlus

Cardiac and laterality defects

A rare congenital disorder involving congenital heart abnormalities as well as laterality defects which are disruptions to the body's normal left-right plan. For example, internal organs may be located on the wrong side of the body.

Cardiac conduction defect- familial

Familial cardiac conduction defects belong to the group of inherited arrhythmias and can be classified under the broad heading of ``familial disorders affecting impulse propagation and cardiac conduction''. Patients can be asymptomatic or present with palpitations or occasionally symptoms of hemodynamic disorder, i.e. dizziness, syncope, heart failure, sudden cardiac death. Patients are often well aware of the onset and offset of intermittent tachyarrhythmias

Cardiac diverticulum

A rare congenital heart malformation involving the outpouching (diverticulum) of a ventricle which can affect heart function to varying degrees depending on the size and location of the defect.

Cardiac hydatid cysts with intracavitary expansion

Cardiac hydatid cysts with intracavitary expansion: A parasitic infection that occurs in the heart. Hydatid cyst is the larval stage of a parasite called echinococcus granulosus. Symptoms will depend on the exact location of the cyst. Usually the liver and lungs are involved

Cardiac valvular dysplasia- X-linked

Cardiac valvular dysplasia, X-linked: An inherited (X-linked) form of heart disease involving mitral or aortic valve regurgitation. Females are carriers and hence asymptomatic whereas males displayed symptoms

Cardioauditory syndrome of Sanchez Cascos

Cardioauditory syndrome of Sanchez- Cascos: A rare syndrome characterized mainly by heart and hearing abnormalities. The deafness was present at birth or soon after.

Cardiocranial syndrome

Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.

Cardiofacial syndrome short limbs

Cayler cardiofacial syndrome: Another name for Cayler syndrome (or close medical condition association). Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.

Cardiofaciocutaneous syndrome

Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.

Cardiogenital syndrome

Cardiogenital syndrome: Another name for Genital anomaly - cardiomyopathy (or close medical condition association). Genital anomaly - cardiomyopathy: A rare syndrome characterized by the association of heart disease with genital abnormalities.