Diseases

Boomerang dysplasia

A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.

Bor-Duane hydrocephalus contiguous gene syndrome

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

Borjeson-Forssman-Lehmann syndrome is characterised by the association of intellectual deficit with endocrine anomalies, epilepsy, hypogonadism and facial dysmorphism.

Bork Stender Schmidt syndrome

A very rare syndrome characterized primarily by unusual hair, retinal disease, dental problems and short fingers.

Borreliosis

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.

Boscherini Galasso Manca Bitti syndrome

A rare syndrome characterized by a range of abnormalities including mental retardation, growth hormone deficiency, congenital heart defect and facial abnormalities

Bothriocephalosis

Infection with an intestinal parasite. The parasite is a fish tapeworm called Diphyllobothrium latum. Human infection is caused by eating undercooked contaminated fish.

Botulism

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:

  • Foodborne botulism. The harmful bacteria thrive and produce the toxin in environments with little oxygen, such as in canned food as well as it comes from eating food contaminated with the toxin,
  • Wound botulism. If these bacteria get into a cut, they can cause a dangerous infection that produces the toxin.
  • Infant botulism. This most common form of botulism begins after Clostridium botulinum bacterial spores grow in a baby's intestinal tract. It typically occurs between the ages of 2 months and 8 months. It is caused by consuming the spores of the bacteria, usually from honey.

All types of botulism can be fatal and are considered medical emergencies.

Boucher Neuhauser syndrome

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.

Boudhina Yedes Khiari syndrome

A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions .

Bourneville syndrome

A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions

Bourneville syndrome- type 1

A rare genetic disorder with a variety of abnormalities such as seizures , mental retardation, skin lesions and nodules in various body tissues and organs

Bourneville syndrome- type 2

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

Bowen syndrome

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.

Bowen-Conradi syndrome

A very rare inherited disorder characterized by low birth weight, small head, facial anomalies and failure to thrive.

Bowen’s disease

Intraepiderman form of squamous cell skin cancer cause by sun damage to skin.

Bowenoid papulosis

Benign reddish-brown papules occurring primary in the genetalia believed to be viral in origin.

Bowing of legs- anterior- with dwarfism

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

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

Boylan-Dew-Greco syndrome: A very rare syndrome characterized primarily by insufficient myelination of peripheral nerves and contractures at birth.

Brachman-de Lange syndrome

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.

Brachycephalofrontonasal dysplasia

Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.

Brachydactylous dwarfism Mseleni type

Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine . The condition can eventually lead to disability and hip and/or knee replacements in serious cases.

Brachydactyly absence of distal phalanges

Congenital hyponychia and anonychia are rare malformations which may form part of syndromes such as nail–patella syndrome, ectodermal dysplasias and brachydactylies, or may occur as an isolated finding. Congenital hyponychia and anonychia are frequently accompanied by underlying skeletal abnormalities. A 20-year-old woman showed congenital bilateral hypoplasia or aplasia of the second, third and fourth toenails with corresponding phalanx dysplasia or aplasia of the affected toes. Malformations of the hands or other congenital defects were absent. The findings in this patient do not exactly fit any known entities. Our clinical observation prompted us to review the literature on congenital hyponychia/anonychia and to summarize recent advances in understanding molecular events in nail development. In conclusion, the association of nail anomalies with aplasia and/or hypoplasia of corresponding middle and/or distal phalanges supports the hypothesis of bone-dependent nail formation.

Brachydactyly anonychia

Brachydactyly - anonychia: A rare syndrome characterized by short toes and nail abnormalities

Brachydactyly clinodactyly

Brachydactyly-clinodactyly (medical condition): A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger.