Intracranial arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the brain. The type and severity of symptoms is determined by the size and location of the cyst.
Intracranial arteriovenous malformation: A congenital malformation where there is an opening that connects an artery with a vein inside the brain. Severity of symptoms is determined by the extent of the malformation.
Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years old.
Intrahepatic Cholestasis of Pregnancy (ICP), also termed Obstetric Cholestasis in the United Kingdom, is a reversible form of cholestasis, a liver disorder that occurs in pregnant women. ICP gives rise to troublesome itching during pregnancy but may lead to possibly serious complications for the mother and very serious outcomes for the fetus. Itching has long been considered to be a common symptom of pregnancy. The vast majority of times, itching, or pruritus is a minor annoyance caused by changes to the skin, especially that of the abdomen.
Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Bile flow returns to normal after delivery of the baby, and the signs and symptoms of the condition disappear. However, they can return during later pregnancies.
Intraocular melanoma: A type of cancer that develops from pigment producing cells in the eye. The cancer can occur in the iris, choroids or ciliary body. The melanoma may metastasize in some cases. The condition is often asymptomatic.
Intrathoracic kidney - vertebral fusion: A very rare disorder characterized by fused vertebrae, extra ribs and displacement of kidneys into the chest cavity.
Intrauterine growth retardation mandibular malar hypoplasia (medical condition): A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities
Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
Intrinsic factor, congenital deficiency of: A very rare disorder where a deficiency of a protein called intrinsic factor prevents vitamin B12 from being absorbed from the stomach. Thus, vitamin B12 deficiency occurs which leads to anemia.
Iodine antenatal infection: Excessive fetal exposure to iodine which can destroy part or all of the thyroid gland.
IRAK4 deficiency (medical condition): Susceptibility to infection as a result of a genetic defect which affects immunity. Infections tend to be severe and can be life-threatening.
Iridocyclitis, a type of anterior uveitis, is a condition in which the uvea of the eye suffers inflammation.
Iridogoniodysgenesis and skeletal anomalies: A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance.
Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells. These cells lead to formation of most of the anterior segment structures of the eye (corneal stroma & endothelium, iris stroma, trabeculum).
Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells. These cells lead to formation of most of the anterior segment structures of the eye (corneal stroma & endothelium, iris stroma, trabeculum).
Iris hypoplasia and glaucoma: A rare disorder characterized by glaucoma and underdeveloped iris.
Irons-Bhan syndrome: A very rare syndrome characterized mainly by lymphoedema in the legs, heart defects and a hydrocele (swollen testicles).
Isaac's syndrome (also known as neuromyotonia, Isaac-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by continuous signaling of the end regions of peripheral nerve fibers that activate muscle fibers (motor neurons). Symptoms, which include progressive muscle stiffness, continuous vibrating or twitching muscles, cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when patients are under general anesthesia. Many patients develop weakened reflexes and muscle pain, but numbness is relatively uncommon. Although symptoms can be limited to cranial muscles, in most patients stiffness is most prominent in limb and trunk muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Age of onset is between ages 15 and 60, with most patients experiencing symptoms before age 40. There are hereditary and acquired forms of the disorder. The acquired form may develop in association with peripheral neuropathies or as an autoimmune condition
Ischiadic hypoplasia - renal dysfunction - immunodeficiency: A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped.
Ischiopatellar dysplasia: A very rare disorder involving abnormal bone development in the legs and pelvis. Other anomalies involving the face and skull may also be involved occasionally.
Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic disorder in which the body is unable to process certain amino acids properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a build up of valine in the urine, a symptom called valinuria.
The spleen is involved in the immune response to pneumococcal infections. Splenic phagocytes play an important role in removal of complement opsonised pneumococci from the blood, a process which is enhanced by the presence of specific antibody against the polysaccharide capsule of the organism. These immunological observations are supported by clinical experience in which deficiency of specific antibody or hyposplenism led to an increase in the risk of pneumococcal disease.
Isolated congenital asplenia (ICA) is a rare form of primary immunodeficiency, which is characterized by the absence of a spleen at birth in individuals with no other developmental defects. Most affected individuals die of severe bacterial infections in early childhood, others are prone to life-threatening bacterial infections. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome.
Isolated congenital nail dysplasia is an autosomal dominant disorder recently observed across five generations in a large family from southern Germany. Same condition was described in a Sicilian family by Pavone in 1982.
Isolated congenital nail dysplasia manifests from the first year of life. Affected family members showed no associated skin, hair or tooth alterations, as well as no malfunction of sweat glands or sensory organs.
Isosporosiasis: A parasitic disease caused by a protozoa called Isospora belli. Infection occurs through eating contaminated food and tends to occur in tropical areas. Immunocompromised patients tend to be more susceptible to the infection and the symptoms are more severe.
Isotretinoin embryopathy like syndrome: A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin.
Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.
Isthmian coarctation (medical condition): A rare inherited birth defect where the heart blood vessel called the aorta has a narrowed area which affects blood flow. The degree of constriction is variable which mild cases asymptomatic until adulthood. The poor blood flow to the lower body gives results in it appearing less developed than that upper body.
Ivemark syndrome is now largely a historical term for the association of congenital asplenia (absence of a spleen) with malformations of the cardiovascular system (which transports blood through the body via the hearts, lungs and veins) and abnormal arrangement of the chest and abdominal (thoraco-abdominal) organs. Ivemark Syndrome is part of a group of disorders known as heterotaxy syndromes which includes both right (Ivemark) and left isomerism. In these conditions there is a failure of the normal lateralisation of internal organs (i.e. left and right sided) resulting in mirror imaging of certain structures on both sides of the body.