A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 1 is caused by a genetic defect located at chromosome Xp22.3.
A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 3 is recessively inherited and the genetic defect is located at chromosome 20p13.
A rare congenital disorder characterized by fusion of bones in the wrists and ankles as well as other bone development abnormalities in the limbs.
A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration
A lung disease caused by breathing in air contaminated with kaolin (component of china clay). It is generally an occupation disease where people are exposed to the contaminated air for prolonged periods of time. Kaolin is used to make ceramics, paper, medicines, cosmetics and toothpaste. Generally symptoms stop once the exposure ceases.
A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
A very rare syndrome characterized mainly by reduced pituitary hormone production and small eyes.
Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing.
Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS). Options for treatment may include local therapy, radiation therapy, chemotherapy and biologic therapy (immunotherapy). The main aim is to restore immunity.
This is a vascular tumor associated with the Kasabach-Merritt phenomenon (severe coagulopathy due to platelet trapping and spontaneous bleeding). These tumors are histopathologically distinct from the common hemangiomas of infancy.
A rare disorder characterized by severe mental retardation, cleft lip, cleft palate, long columella (tissue that separates the nostrils) and eye, heart and intestinal abnormalities
A very rare syndrome characterized mainly by cataracts, mental retardation and genitourinary tract abnormalities
Kartagener's Syndrome is a chronic lung disease that occurs when cilia are unable to move. Kartagener's Syndrome is a rare genetic birth defect. Individuals with Kartagener's Syndrome have abnormal or absent ciliary motion.
A very rare syndrome characterized mainly by a narrowed pulmonary aorta and urinary obstructive disease.
A very rare syndrome characterized mainly by missing fingers or cleft hand, spina bifida and heart disease
A very rare syndrome characterized mainly by mental retardation and hair abnormalities
A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited.
Kawasaki syndrome, (also known as Kawasaki disease, lymph node syndrome, and mucocutaneous lymph node syndrome), is an autoimmune disease in which the medium-sized blood vessels throughout the body become inflamed. It is largely seen in children under five years of age. It affects many organ systems, mainly those including the blood vessels, skin, mucous membranes, and lymph nodes. Its rarest but most serious effect is on the heart, where it can cause fatal coronary artery aneurysms in untreated children. Without treatment, mortality may approach 1%, usually within six weeks of onset. With treatment, the mortality rate is 0.17% in the U.S.
Often, a pre-existing viral infection may play a role in its pathogenesis. The skin, the conjunctivae of the eyes, and the mucous membranes of the mouth become red and inflamed. Swelling of the hands and feet is often seen and lymph nodes in the neck are often enlarged. A recurrent fever, often 37.8 °C (100.0 °F) or higher, is characteristic of the acute phase of the disease. In untreated children, the fever lasts about 10 days, but may range from five to 25 days. The disorder was first described in 1967 by Tomisaku Kawasaki in Japan.
A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
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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'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.
A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities.
A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
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.