new abnormal bone tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease; includes tumors or cancer located in bone tissue or specific bones.
A rare disorder characterized by high levels of ferritin in the blood and cataracts that usually occur during infancy.
A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
A very rare syndrome characterized mainly by abnormal brain development and internal malformations.
A rare condition observed in a number of generations within one family. It was characterized by excessive sweating.
A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
Borjeson-Forssman-Lehmann syndrome is characterised by the association of intellectual deficit with endocrine anomalies, epilepsy, hypogonadism and facial dysmorphism.
A very rare syndrome characterized primarily by unusual hair, retinal disease, dental problems and short fingers.
Borreliosis is an infectious disease caused by bacteria of the Borrelia type. The most common sign of infection is an expanding area of redness, known as erythema migrans, that begins at the site of a tick bite about a week after it has occurred. The rash is typically neither itchy nor painful. About 25% of people do not develop a rash. Other early symptoms may include fever, headache, and feeling tired. If untreated, symptoms may include loss of the ability to move one or both sides of the face, joint pains, severe headaches with neck stiffness, or heart palpitations, among others. Months to years later, repeated episodes of joint pain and swelling may occur. Occasionally, people develop shooting pains or tingling in their arms and legs. Despite appropriate treatment, about 10 to 20% of people also develop joint pains, have memory problems, and feel tired much of the time.
A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
A rare syndrome characterized by a range of abnormalities including mental retardation, growth hormone deficiency, congenital heart defect and facial abnormalities
A rare syndrome characterized mainly by a reduced sense of smell, an underdeveloped nose and hypogonadism.
Infection with an intestinal parasite. The parasite is a fish tapeworm called Diphyllobothrium latum. Human infection is caused by eating undercooked contaminated fish.
Botulism is a rare but serious illness caused by a bacterium called Clostridium botulinum,. It produces a toxin that affects your nerves. Three common forms of botulism are:
All types of botulism can be fatal and are considered medical emergencies.
Boucher-Neuhauser syndrome (BNHS) is an autosomal recessive disorder, which is very rare and characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions .
A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions
A rare genetic disorder with a variety of abnormalities such as seizures , mental retardation, skin lesions and nodules in various body tissues and organs
A rare genetic condition characterized by mental and physical retardation, seizures and numerous benign tumors that can occur on the skin or in organs. The severity of symptoms can vary greatly depending on where the tumors occur
Zellweger syndrome (another name of Bowen syndrome) is a rare hereditary disorder affecting infants, and usually results in death. A leukodystrophy that is caused by a absence of peroxisomes.
A very rare inherited disorder characterized by low birth weight, small head, facial anomalies and failure to thrive.
Intraepiderman form of squamous cell skin cancer cause by sun damage to skin.
Benign reddish-brown papules occurring primary in the genetalia believed to be viral in origin.
A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
Anterior bowing of legs with dwarfism is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Anterior bowing of legs with dwarfism, or a subtype of Anterior bowing of legs with dwarfism, affects less than 200,000 people in the US population.
Bowing of long bones congenital: A rare congenital disorder where the long bones in the arms and legs are abnormally bowed or shortened. The most common bones involved are the thigh, shin and forearm (ulna) bones.
Boylan-Dew-Greco syndrome: A very rare syndrome characterized primarily by insufficient myelination of peripheral nerves and contractures at birth.
Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000.
De Lange Syndrome was discovered twice. Cornelia De Lange, a Dutch professor of pediatrics, identified the characteristic mental deficits and physical characteristics of De Lange syndrome in 1933. However, the syndrome had been previously described by another physician named Brachman in 1916. That earlier account was recorded in a book that became damaged and was not widely accessible. Today, De Lange syndrome is also known as Brachman-De Lange syndrome in recognition of Dr. Brachman's original discovery.