A rare inherited eye disorder involving degeneration of the cornea which gives the cornea a characteristic geographic or map-like appearance. The Bowman membrane of the cornea is the main area affected. The condition occurs as a result of a genetic defect on chromosome 5q31
A very rare syndrome characterized by eye problems, pigmented skin spots and malabsorption due to chronic diarrhea.
An eye disease where corneal deterioration causes geographic, map-like lines to form on the surface of the cornea.
A rare inherited eye disorder involving degeneration of the cornea which gives the cornea a characteristic lumpy gelatinous appearance (similar to the surface of a mulberry). A substance called amyloid is deposited in the cornea in a lattice pattern. The condition occurs as a result of a genetic defect on chromosome 1p32.
A rare eye disorder characterized by chilidhood onset of degeneration of the cornea (clear covering of the eye) which impairs vision. Both eyes are affected.
A genetic eye disorder where the cornea of the eye develops abnormal, lattice-shaped lines caused by abnormal deposits of a substance called amyloid. There are three different types of corneal dystrophy: type 1 is a dominantly inherited form with an early onset of vision impairment, type 2 is a less severe eye disorder but is associated with systemic amyloidosis (Meretoja's syndrome) and type 3 is a recessive form that usually starts after the age of 70. Type II generally does not cause vision problems until later in life
A slowly progressive disease of the anterior basement membrane that leads to scarring, pain, and photophobia. There are subepithelial corneal opacities with a clear limbal zone, and a honeycomb-shaped opacity pattern, Previously this form of corneal dystrophy has erroneously been classified as Reis-Bücklers' dystrophy. The clinical symptoms hardly differ from those of Reis-Bücklers' dystrophy, but the histological appearance is clearly distinct.
A rare inherited eye disorder involving degeneration of the endothelial (inner) layer of the cornea. Type 2 tends to have an earlier age of onset than type 1.
Cornelia de Lange Syndrome aka CdLS is a little known genetic disorder that can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. Exact incidence is unknown, but is estimated at 1 in 10,000 to 30,000.
very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 3 is a very mild form of the disorder and is typified by mildly unusual facial appearance and no skeletal or limb malformations.
A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems
A very rare syndrome characterized mainly by webbed toes, blocked small intestine and premature fusion of certain skull bones (coronal)
An abnormal opening between a heart artery and a heart chamber or great vessel. This rare defect is present at birth and often causes no problems or symptoms until adulthood. The severity of the condition is determined by the size and exact location of the defect.
Abnormal coronary arteries present at birth. The coronary artery may be misplaced or deformed and the severity of the defect will determine the type and seriousness of symptoms. Some malformations produce no clinical symptoms whereas others are life-threatening without prompt treatment.
Coronary artery aneurysms (CAA), also referred to as ectasias, are typically defined as a dilatation in the diameter of a coronary artery segment to more than 1.5-fold normal size. Coronary artery aneurysm is an uncommon condition that may commonly represent the result of vasculitis, excess active transforming growth factor β (TGF-β) or dysregulation of matrix metal loproteinases. When encountered at autopsy, coronary artery aneurysm may represent the intermediate cause of death because abnormal blood flow within the aneurysm may lead to thrombus format ion, occlusion, embolization, myocardial ischemia, or myocardial infarct ion. Coronary artery aneurysm is a neglected topic in the pathology literature, with contributions limited primarily to reports of single cases.
A coronary artery dissection (also known as spontaneous coronary artery dissection, or SCAD) is a rare, sometimes fatal traumatic condition, with eighty percent of cases affecting women. The condition may be related to female hormone levels, as it is often seen in post-partum women, or in women during or very near menstruation, but not always. It is not uncommon for SCAD to occur in people in good physical shape and with no known prior history of heart related illness. It is also not uncommon for SCAD to occur in people in their 20's, 30's, and 40's, as well as older.
Early studies of the disease placed mortality rates at around 70%, but more recent evidence suggests a figure of around 20%. The condition is often seen to be related to female hormone levels, as well as other pre-existing cardiovascular conditions. In addition to this, a dissection can occur iatrogenically, by the surgical inserion of a catheter into the coronary artery.
Source: Wikipedia
Agenesis of the Corpus Callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. Agenesis of the corpus callosum occurs when the corpus callosum, the band of tissue connecting the two hemispheres of the brain, fails to develop normally, typically in utero, resulting in disconnected brain hemispheres. The development of the fibers which would otherwise form the corpus callosum become longitudinally orientated within each hemisphere and form structures called Probst Bundles.
A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder
A rare genetic disorder involving mental retardation, progressive neuropathy and absence of the fibers that connect the two halves of the brain together.
A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies
A progressive syndrome associated with alcohol abuse and/or nutritional disorder. It is characterized by fits, stupor, dementia and coma.
Partial or complete lack of development of the structure that divides two sides of the brain (corpus callosum). As the condition is X-linked, it only occurs in males.
A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation
A rare syndrome characterized by nail, hair and teeth abnormalities, malformed hands and feet and seizures . The disorder has only been reported in one cause which resulted in death at 31 months.
A very rare syndrome characterized by mental retardation, extra fingers and vision loss.