Conjunctivitis ligneous
A rare disorder characterized by the formation of thick, tough, woody (ligneous) lesions on mucous membranes
A rare disorder characterized by the formation of thick, tough, woody (ligneous) lesions on mucous membranes
A complication of conjunctivitis where the discharge from the inflammation coagulates and sticks to the conjunctiva to form what is called a pseudomembrane. This pseudomembrane can be removed usually without causing any bleeding.
A rare metabolic endocrine disorder characterized by excessive secretion of aldosterone resulting in an imbalance of important body chemicals.
A very rare syndrome caused by an inherited collagen disorder and characterized by skin abnormalities, skeletal and eye anomalies and joint problems.
A genetic mutation that causes congenital deafness
A rare inherited disorder characterized mainly by kidney failure, abnormal bone development (cone-shaped epiphyses), eye problems and ataxia.
A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
Conradi–Hunermann syndrome ( Conradi–Hunermann–Happle syndrome , Happle syndrome, and X-linked dominant chondrodysplasia punctata ) is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene) and affects between one in 100,000 and one in 200,000 babies.
A lung disease caused by inhalation of v. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
A rare disorder where muscles suffer from stiffness and cramping, particularly limb muscles.
A rare form of epilepsy that occurs between the ages of 3 and 7 and is diagnosed by the observation through an EEG of continuous spike and wave discharges during the slow sleep phase which is detected. The seizures often occur during sleep. Children outgrow the condition before adulthood but some of the effects of the disorder may continue longer.
A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation.
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.