Diseases

Isolated congenital asplenia (ICA)

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

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

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

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

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

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

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.

IVIC syndrome

IVIC syndrome An AD condition characterized by multiple congenital defects, eg, a defect in the radial 'ray'–an embryologic structure from which the radial bone and related musculoskeletal structures arise, strabismus, deafness, thrombocytopenia

Jackson-Weiss syndrome

A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe.

Jacobs syndrome

A rare chromosomal genetic syndrome where the male person has an extra Y male chromosome, becoming XYY instead of normal XY (male) or XX (female). The person is male and may be mostly normal, or may suffer from minor features from excess male hormones, such as excess acne being very tall, and in some cases behavioral complaints such as aggression.

Jacobsen syndrome

A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.

Jadassohn Lewandowsky syndrome

A rare, inherited disorder characterized by thickening of nails, white patches on mouth and anus(leukoplakia) and thickened hard skin on soles and palms

Jaffer Beighton syndrome

A rare inherited syndrome characterized by loose joints, slipped vertebrae and long, thin fingers.

Jamaican vomiting sickness

An acute and frequently fatal vomiting disease associated with central nervous system symptoms and marked hypoglycaemia, caused by eating unripe ackee fruit of Blighia spaida, a tree common in jamaica.

Jankovic Rivera syndrome

A rare inherited syndrome characterized by involuntary muscle jerking and progressive muscle wasting in the hands and feet.

Japanese encephalitis

A form of encephalitis caused by a flavivirus (Japanese B encephalitis virus - JBEV) and transmitted by mosquito bites.

Jarcho-Levin syndrome

A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.

Jejunal atresia

A rare birth defect where developmental abnormalities result in the small intestine being completely absent or blocked.

Jejunal atresia with renal adysplasia

A very rare genetic disorder characterized mainly be abnormal or absent kidneys as well as jejunal atresia. Jejunal atresia is a birth defect where a portion of the small intestine (jejunum) is completely closed off or blocked due.

Jensen syndrome

A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system

Jervell Lange-Nielsen syndrome

A rare condition characterized by congenital deafness and a long Q-T interval which is where the heart takes longer than normal to recharge after a heartbeat.

Jeune syndrome

A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.

Jeune syndrome situs inversus

A very rare syndrome characterized mainly by short-limbed dwarfism, small chest, abnormally placed internal organs and various other abnormalities

Jimmy

That's a nicely made answer to a challenging quieston

Johanson Blizzard syndrome

A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.

Johnson Hall Krous syndrome

A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities.

Johnson Munson syndrome

A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.

Johnson neuroectodermal syndrome

Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.