is a rare epithelial cancer that usually arises in the midline of the body and is characterized by a mutation in the nuclear protein in testis (NUT) gene. There are only 62 known cases with the tumor being refractory to conventional treatments, with a median survival of 6.7 months and an overall survival of 19% at 2 years.
A X-linked inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement
A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move horizontally and round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement.
A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The eye tends to move horizontally and round and round in circles. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement
A dominantly inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement. This form is also often associated with strabismus
A recessively inherited eye disorder characterized by involuntary, rapid eye movement that occurs within the first three months of life. The abnormal eye movement stems from a defect in the part of the brain that controls eye movement
An inherited condition involving involuntary vertical eye movements.
Nystagmus, myoclonic is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Nystagmus, myoclonic, or a subtype of Nystagmus, myoclonic, affects less than 200,000 people in the US population. Abnormal eye movements caused by the involuntary twitching of the muscles that control eye movement.
A rare eye disorder characterized by early onset of cataracts and an underdeveloped fovea which is responsible for seeing details such as is needed when reading
A rare heart disorder where thickening of parts of the heart (wall separating the heart chambers) reduces the size of heart chambers and hinders the flow of blood.
Occipital horn syndrome was formerly considered a variant of Ehlers-Danlos syndrome. An X-linked recessive disorder, this variant is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton. These include projections on the back of the skull (parasagittal bone exostoses arising from the occipital bone—the so-called "occipital horns") as well as deformities of the elbow, radial head dislocation, hammer-shaped lateral ends of the clavicles, and abnormalities of the hips and pelvis.
A rare disorder characterized by progressive neurological deterioration due to compression of the spinal cord in the spine.
Ochronosis, often called alkaptonuric ochronosis, is an autosomal recessive metabolic disorder that causes an excess of homogentisic acid, resulting in adverse pigmentation, calcification, and inflammation of cartilagenous and related tissue throughout the body. The disorder is a result of incomplete metabolism of homogentisic acid, tyrosine and phenylalanine
Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, a toxic tyrosine byproduct called homogentisic acid (or alkapton) accumulates in the blood, and is excreted in urine in large amounts(hence -uria). Excessive homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones. Treatment with nitisinone, which suppresses homogentisic acid production, is being studied.[1] Alkaptonuria is more common in Slovakia and the Dominican Republic than in other countries.[2][3]
A rare eye disorder characterized primarily by lack of eye pigmentation. Females tend to have few if any symptoms as the condition is X-linked.
A rare chronic autoimmune eye condition that can result in blindness if not treated. The conjunctival and mucosal layers of the eye (inside of eyelid and outside of eye) become progressively inflamed and scarred. The condition can be very difficult to treat.
Coloboma of the iris (giving the appearance of a vertical pupil, hence the name "cat eye"), atresia of the anus, preauricular tags or fistulae, congenital cardiovascular abnormalities, urinary tract anomalies, and reduced growth rate. Mental retardation is not a consistent feature and, when present, it is usually mild.
A rare condition where the eyes intermittently converge or turn towards each other.
A type of cancer that develops in the eye. The cancer develops from pigment-producing cells called melanocytes. This cancer becomes more common with increasing age.
Any eye disorder that involves problems with moving the eyes which can cause vision problems and or abnormal alignment of the eyes. Examples of ocular motility disorders includes Duane retraction syndrome, Adie's syndrome, strabismus, nystagmus and ophthalmoplegia.
A slow progressing paralysis of the muscles surrounding the eyes. Eventually the eyes are unable to move.
Ocular Myasthenia Gravis (OMG) is a rare autoimmune disorder affecting 15-20% of Myasthenia Gravis patients, causing fatigue and weakness specifically in the eye muscles. Key symptoms include fluctuating eyelid drooping (ptosis) and double vision (diplopia). Diagnosis involves serological antibody testing (AchR), clinical assessments like the ice test, and electrophysiological tests.
Ocular toxoplasmosis is the commonest identifiable cause of posterior uveitis. It predominantly affects children and young people (25-45 years) and is characterised by recurrences that can ultimately lead to significant visual loss. Toxoplasma gondii is an obligate intracellular parasite with the cat as the definitive host. It is transmitted to humans by accidental ingestion of the egg form (oocysts) in cat faecal matter which may contaminate fruit and vegetables, ingestion of the cyst form (bradyzoites) in undercooked or raw meat, and vertical transmission to the fetus during maternal primary infection by the replicating form (tachyzoites). Most clinical episodes of ocular toxoplasmosis represent reactivation of an infection that was acquired in utero. It is likely however, that more patients with ocular disease acquire toxoplasmosis after birth than was previously recognised.
A very rare syndrome characterized by small eyes, optic nerve abnormality and a brain anomaly (Dandy-Walker cyst)
A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities
A very rare syndrome characterized mainly by eye, brain and bone abnormalities.
Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It has also been called oculo-dento-digital syndrome, oculodentodigital dysplasia (ODDD), and oculodentoosseous dysplasia (ODOD). It is considered a kind of ectodermal dysplasia.
A very rare syndrome characterized mainly by eye, skeletal and kidney problems
A very rare syndrome characterized mainly by eye, brain and bone abnormalities.