Caspase-8 deficiency: A rare type of immunodeficiency disorder caused by a deficiency of caspase-8. Caspase-8 an important part of the immune system as it is involved in the activation of T lymphocytes, B lymphocytes and natural killer cells
Castleman disease is a rare illness that affects your lymph nodes and other immune-cell structures of your body. It's classified as a lymphoproliferative disorder, which means it involves a proliferation, or overgrowth, of lymphatic cells. This makes it similar in many ways to cancers of the lymphatic system (lymphomas), which are also characterized by cell overgrowth. Castleman disease isn't considered a cancer, though. The disease is named after the American pathologist who first described it in the 1950s. Other names for Castleman disease are giant lymph node hyperplasia and angiofollicular lymph node hyperplasia. Castleman disease can occur in a localized or a more widespread form. Treatment and outlook depend on which type of Castleman disease you have.
Castro gago pombo novo syndrome: Another name for Microcephaly albinism digital anomalies syndrome (or close medical condition association). Castro gago pombo novo syndrome (medical condition): A rare inherited disorder characterized by a small head, lack of eye, skin and hair pigmentation and finger and toe abnormalities
Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
Cat scratch disease: An infectious disease transmitted through a cat's bite, scratch or lick and resulting primarily in lymph node pain and swelling. The condition can be mild or severe
Catamenial pneumothorax: A collapsed lung that occurs at the same time as menstruation. The condition is believed to be caused by the presence of endometrial tissue in the chest cavity. The endometrial tissue produces blood (just as in the uterus) and can result in the lung collapsing. The lung tends to collapse within 3 days of the start of menstruation.
Cataplexy: A rare condtion characterized by episodes of severe muscle weakness which can sometimes lead to a complete collapse - it usually occurs in people with a sleep disorder called narcolepsy.
Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
Cataract and congenital ichthyosis: A rare syndrome characterized by the presence of cataracts and a dry, scaly skin condition (ichthyosis) at birth or soon after.
Cataract, anterior polar, dominant: A rare, dominantly inherited type of cataract which is characterized by small opacities on the front surface of the eye lens. Vision is usually not affected and the cataract is not associated with any other abnormalities. Type 1 is caused by a genetic defect on chromosome 14q24-qter.
Cataract - ataxia - deafness is a rare syndrome characterized by cataracts, ataxia and progressive deafness.
Cataract, congenital, autosomal dominant: A dominantly inherited form of cataract.
Cataract congenital dominant non nuclear: A dominantly inherited form of cataract which varied in size, pattern and location of the lens opacities.
A dominantly inherited form of cataract that was observed in a family named Volkmann. Cataract surgery was required in most cases within the first 20 years of life.
A very rare inherited condition mainly involving eye abnormalities but also various other physical abnormalities. The type and severity of symptoms is variable.
An inherited form of cataract that occurs in children and is not associated with any other abnormalities.
Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late-onset, generalized, localized, inherited or acquired. More than 50 different OMIM entries related to hypertrichosis exist, few of them with a localized gene locus or with a candidate gene. The review of generalized hypertrichoses from a historical point of view, including a review of their clinical and genetic features, shows heterogeneity with at least nine different entities. A short analysis of other forms of hypertrichosis is presented.
A familial syndrome associated with a very long list of defects
A congenital cataract where the lens opacities occur around the nucleus but not within it.
A rare syndrome characterized by congenital cataracts in both eyes as well as glaucoma which tends to occur between the ages of 10 and 40.
An inherited form of cataract caused by a defect in the CHMP4B gene on chromosome 20q11.
An inherited form of cataract caused by a defect in the PITX3 gene on chromosome 10q25.
A very rare disorder where the blood clotting system becomes dysfunctional and clots too easily due to the abnormal presence of antphospholipid antibodies . It results in blood flow blockages to various body organs. It is possible that the condition has autoimmune origins. The disorder is often triggered by infections, certain drugs (e.g. anticoagulants), minor surgery and hysterectomy.
A hair anomaly where a lock of hair is different in appearance to the rest of the hair. The anomaly may be inherited.
High blood pressure caused by catecholamines (epinephrine and norepinephine) which is produced by the body especially in times of stress. Adrenal tumors that secrete catecholamines can also increase blood pressure as can medications containing catecholamines.
A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a ?1,3-glucosyl-transferase enzyme defect.