A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43.
A very rare inherited eye disorder characterized by corneal inflammation. The severity of the disorder is variable.
A benign form of skin tumor that tends to resolve itself with time. Usually the skin lesion grows for about six weeks, remains stable for a variable length of time and then regresses slowly.
A rare inherited condition characterized by sebaceous gland tumors on the skin and internal malignancies usually involving the digestive tract
Keratoconjunctivitis sicca (KCS), also called keratitis sicca,sicca syndrome, xerophthalmia, dry eye syndrome (DES), or simply dry eyes, is an eye disease caused by decreased tear production or increased tear film evaporation commonly found in humans and some animals
Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue, dome-shaped covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems. Keratoconus usually affects both eyes and generally begins to first affect people ages 10 to 25. The condition may progress slowly for 10 years or longer.
In the early stages of keratoconus, you can correct vision problems with glasses or soft contact lenses. Later you may have to be fitted with rigid gas permeable contact lenses or other types of lenses. If your condition progresses to an advanced stage, you may need a cornea transplant.
Risk factors:
These factors can increase your chances of developing keratoconus:
Complications:
In some situations, your cornea may swell quickly and cause sudden reduced vision and scarring of the cornea. This is caused by a condition in which the inside lining of your cornea breaks down, allowing fluid to enter the cornea (hydrops).
In advanced keratoconus, your cornea may become scarred, particularly where the cone forms. A scarred cornea causes worsening vision problems and may require corneal transplant surgery.
A rare disorder where the back of the corneal surface has an uneven curve
A very rare syndrome characterized by deafness and a horny superficial growth on the palms and soles.
A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
A rare syndrome characterized mainly by coarse hair and superficial horny growths on the palms and soles. Short fingers and thin nails have also been observed
A rare inherited skin disorder involving patches of red and thickened skin on the palms and soles which tend to peel in cold weather
Keratomalacia is an eye disorder that leads to a dry cornea. One of its major causes is a deficiency of Vitamin A.
A rare syndrome characterized mainly by thickened skin on the soles and palms in areas that are under the most trauma e.g. weight-bearing part of sole. The gums also have thickened growths
A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder.
A rare inherited skin disorder affecting mostly males and characterized by hardening of skin around hair follicles which leads to scarring and loss of hair. The skin on the face, neck, forearms and other areas can also be affected
A very rare inherited condition characterized by dry scaly patches on the skin of the palms and soles, gum and teeth problems and frequent skin infections .
A rare disorder characterized by cancer of the secretory lining of the colon as well as thickening of the skin on the palms and soles. The colon cancer tends to grow slowly.
A rare condition involving thickening of the skin on the palms and soles.
A very rare skin disorder involving streaks of thickened skin along the fingers and palms as well as the bottom of the feet. Type 1 is caused by a genetic defect located on chromosome 18q12.1-q12.2,12q13.
A very rare skin disorder involving streaks of thickened skin along the fingers and palms as well as the bottom of the feet. Type 3 is caused by a genetic defect located on chromosome 12q13
A very rare condition involving thickening and hardening of the horny layer of skin on the palms and soles as well as an frequent association with esophageal cancer.
Seborrheic keratosis is noncancerous (benign) wart-like growths on the surface of the skin.
Kerion celsi: A parasitic fungal skin infection that tends to occur mainly on the back of the neck, scalp or beard. It is caused by animal fungi. The condition resolves itself in a matter of weeks but hair loss in the affected area may be permanent.
Alternative Names: Bilirubin encephalopathy Kernicterus is a rare neurological condition that occurs in some newborns with severe jaundice.
Keshan disease: A heart muscle disease believed to be caused by a deficiency of the mineral called selenium in the diet .
Keutel syndrome: A rare genetic syndrome characterized by narrowing of blood flow through the pulmonary artery, calcification of cartilage (such as in nose, ear, ribs) and short end bones on fingers and toes.
KID syndrome: Acronym for the Keratitis- Ichthyosis-Deafness syndrome, a genetic disorder. Keratitis-ichthyosis-deafness syndrome: An inherited disorder in which affected persons have: * Keratitis -- gradual destruction of the cornea of the eye, sometimes leading to blindness * Ichthyosis -- localized areas of disfiguring reddish thickened skin ("fish skin") * Deafness -- at birth Another characteristic feature is thin or even absent scalp hair. Some patients have developed carcinoma of the tongue while others have subtle abnormalities of the nervous system. The KID syndrome is inherited as an autosomal dominant trait. The cause of the syndrome is mutation in the GJB2 (connexin 26) gene. The mutations in GJB2 involve one of the following amino acid substitutions: glycine replaced by arginine at position 12 (Gly12Arg), serine replaced by phenylalanine at position 17 (Ser17Phe), or aspartic acid replaced by tyrosine at position 50 (Asp50Tyr). The disease is also called the KID syndrome, an acronym for Keratitis-Ichthyosis-Deafness. Keratitis-ichthyosis-deafness syndrome, autosomal recessive: Another name for Ichthyosiform erythroderma, corneal involvement, deafness (or close medical condition association).
Kienbock disease: A condition where interruption of the blood flow to the lunate bone (often due to wrist inflammation or injury) in the wrist damages it and impairs wrist movement.
Kifafa seizure disorder: A rare form of seizure involving head nodding prior to the seizure and often associated with neurological symptoms and Parkinson-like symptoms.
Kikuchi disease: A rare lymph node disorder which is not cancerous but causes large, inflamed lymph nodes.