Juvenile primary lateral sclerosis: A very rare genetic disorder characterized by increasing weakness and stiffness of the muscles in the arms, legs and face due to damage to nerve cells that control motor movement.
Scleroderma that occurs in children. Scleroderma is a connective tissue disease that can affect the skin, blood vessels, the immune system and sometimes even the organs may be involved. The disorder may be localized or affect large areas of the body.
A rare form of localized blood vessel inflammation that affects older children and young adults. The condition is harmless and any nodules that develop can be removed and do not reappear. The nodules develop in blood vessels in the temples.
A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the middle of the first decade. In the two reported cases, death occurred early in the third decade.
Kabuki syndrome (Kabuki makeup syndrome, KMS or Niikawa–Kuroki syndrome), is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births. It was identified and described in 1981 by two Japanese groups, led by the scientists Norio Niikawa and Yoshikazu Kuroki. It is named Kabuki Syndrome because of the facial resemblance of affected individuals to stage makeup used in Kabuki, a Japanese traditional theatrical form.
A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair .
Hypertension caused by a reduced level of Kallikrein which is involved in controlling blood pressure through it's effect on kidney function. Reduced kallikrein secretion can be associated with hypertension.
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 2 is caused by a genetic defect located at chromosome 8p11.2-p11.1.
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.