A rare psychiatric condition where physical symptoms result from emotional distress or conflict. The physical symptoms may include blindness or even paralysis. The condition is considered when there is no apparent underlying medical condition causing the symptoms.
A rare dominantly inherited type of epilepsy that occurs in newborns. The seizures can occur during sleep or while awake and may be partial or generalized
An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters.
A rare inherited copper deficiency. Copper has many functions in the body including heart function, cholesterol metabolism, brain development, immune defenses, blood supply, glucose metabolism and normal bone development.
Coproporphyria is one of the porphyrias, a group of diseases that involves defects in heme metabolism and that results in excessive secretion of porphyrins and porphyrin precursors.
A rare birth defect where the heart has two chambers instead of the normal four. The severity of the condition is variable with some cases being asymptomatic during infancy and survival has occurred for several decades in some cases. The defect rarely occurs on its own and is usually associated with various other malformations such as inverted abdominal organ positions
A rare congenital malformation where the heart has three atria instead of the normal two due to the presence of a separating membrane.
Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
A rare eye disorder characterized by cataracts and a corneal abnormality called guttata.
A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body
A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals
Corneal dystrophy is a group of disorders, characterised by a noninflammatory, inherited, bilateral opacity of the transparent front part of the eye called the cornea. It is commonly seen in humans as well as dogs. It is rare in cats.
A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
rare inherited eye disorder involving degeneration of the cornea. The degeneration is caused by granular deposits in the cornea as well as deposits of amyloid in a lattice pattern on the cornea. The condition occurs as a result of a genetic defect on chromosome 5q31
A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation.
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