Osteoporosis (progressive bone loss) that occurs in children. Osteoporosis in children can be caused by certain medical conditions (e.g. diabetes, malabsorption syndromes, kidney disease, hyperthyroidism), certain medications (e.g. corticosteroids, anticonvulsants), prolonged immobility or sometimes for no detectable reason (idiopathic).
A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood.
Astrocytomas are tumors that arise from a type of glial (supporting) cell in the nervous system. Pilocytic astrocytomas are the most common benign brain tumors found in children. In children, this group of tumors includes most astrocytomas in the cerebellum, a region in the lower back portion of the brain that controls movement and balance; optic nerve gliomas, tumors that arise from the supporting cells in the optic nerve; and several other types of benign tumors. These tumors usually are cystic, meaning they are composed of a closed fluid- or semi-solid-filled sac, and they can arise almost anywhere in the brain. Because most pilocytic astrocytomas are slow-growing tumors that are not likely to spread to other parts of the body, the prognosis for children diagnosed with this type of tumor is excellent.
Juvenile polyposis syndrome (JPS) is a hereditary condition that is characterized by the presence of hamartomatous polyps in the digestive tract. Hamartomas are noncancerous masses of normal tissue that build up in the intestines or other places. These masses are called polyps if they develop inside a body structure, such as the intestines. The term juvenile polyposis refers to the type of polyp (juvenile polyp) that is found after examination under a microscope, rather than the age at which people are diagnosed with JPS.
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.