KBG syndrome
A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
Diseases
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Kearns-Sayre syndrome
Kearns–Sayre syndrome (abbreviated KSS). is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). This results in ptosis and ophthalmoplegia respectively. KSS involves a combination of the already described CPEO as well as bilateral pigmentary retinopathy and cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency, hypoparathyroidism, and other endocrinopathies. In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. This discussion is limited specifically to the more severe and systemically involved variant.
Kennedy disease
Kennedy's disease is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord.
The condition is associated with mutation of the androgen receptor (AR) gene and is inherited in an X-linked recessive manner.
Kennerknecht Sorgo Oberhoffer syndrome
A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
Kennerknecht Vogel syndrome
A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities.
Kenny Caffey syndrome
A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
Kenny-Caffey syndrome- Type 1
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.
Keratitis- hereditary
A very rare inherited eye disorder characterized by corneal inflammation. The severity of the disorder is variable.
Keratoacanthoma
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.
Keratoacanthoma familial
A rare inherited condition characterized by sebaceous gland tumors on the skin and internal malignancies usually involving the digestive tract
Keratoconjunctivitis sicca
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
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:
- Having a family history of keratoconus
- Rubbing your eyes vigorously
- Having certain conditions, such as retinitis pigmentosa, Down syndrome, Ehlers-Danlos syndrome, hay fever and asthma
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.
Keratoconus posticus circumscriptus
A rare disorder where the back of the corneal surface has an uneven curve
Keratoderma palmoplantar deafness
A very rare syndrome characterized by deafness and a horny superficial growth on the palms and soles.
Keratoderma palmoplantar spastic paralysis
A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
Keratoderma palmoplantaris transgrediens
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
Keratolytic winter erythema
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
Keratomalacia is an eye disorder that leads to a dry cornea. One of its major causes is a deficiency of Vitamin A.
Keratosis focal palmoplantar gingival
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
Keratosis follicularis dwarfism cerebral atrophy
A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder.
Keratosis follicularis spinulosa decalvans
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
Keratosis palmoplantar periodontopathy
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 .
Keratosis palmoplantaris adenocarcinoma of the colon
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.
Keratosis palmoplantaris papulosa
A rare condition involving thickening of the skin on the palms and soles.
Keratosis palmoplantaris striata 1
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.
Keratosis palmoplantaris striata 3
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
Keratosis palmoplantaris with esophageal cancer
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.
Keratosis- seborrheic
Seborrheic keratosis is noncancerous (benign) wart-like growths on the surface of the skin.
Kerion celsi
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.