Diseases

Brachyolmia

Brachyolmia: A syndrome characterized mainly by short trunk dwarfism. Brachyolmia: A syndrome characterized mainly by short trunk dwarfism.

Brachyolmia- recessive Hobaek type

provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (271630) forms and is inherited in an autosomal dominant fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism.

Bradykinesia

Bradykinesia: A condition which is characterized by abnormal slowness of movement.

Brain Stem neoplasms

Brain Stem Neoplasms: A brain stem tumor. The tumor may be malignant or benign and the severity of the condition is determined by the size of the tumor and exact location.

Brain tumor- adult

Brain tumor, adult: A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant.

Branchial arch defects

Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.

Branchial arch syndrome X-linked

Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.

Branchial clefts with characteristic facies- growth retardation- imperforate nasolacrimal duct

Branchooculofacial syndrome (BOFS) is a rare condition characterized by a distinct phenotype of branchial cleft, thick and narrow philtrum resembling a pseudocleft of the upper lip, nasolacrimal duct obstruction, linear skin lesions behind the ears, proliferation of blood vessels in the lower neck, characteristic facies, and premature senility. Affected individuals have malformed ears with posteriorly angulated pinna, thin helix, prominent antihelix, upturned lobules, and auricular pits. The nose is dysplastic, with a wide bridge and indented tip. Ocular abnormalities include microphthalmia or anophthalmia, hypertelorism, coloboma, strabismus, and cataract. Growth and occasional mental retardation is also seen in patients. (branchial cleft cyst), softtissue cyst usually seen on the lateral side of the neck, arising from epithelial illusions within the cervical lymph nodes. Microscopic examination shows the epithelial lining of stratified squamous epithelium surrounded by lymphoid tissue. Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.

Branchio-oculo-facial syndrome

Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.

Branchiootic syndrome

Branchiootic syndrome: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset.

Branchiootorenal syndrome 1

Branchiootic syndrome 1: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 1 is caused by a defect on the EYA1 gene on chromosome 8q13. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.

Branchiootorenal syndrome 2

Branchiootic syndrome 2: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 2 is caused by a defect chromosome 1q31. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.

Brenner tumor of ovary

Brenner tumor: A tumor of the ovary whose structure consists of groups of epithelial cells lying in a fibrous connective tissue stroma. Brenner tumors are uncommon, representing less than 1% of all ovarian neoplasms.

Brenner tumor of the vagina

Polyps of the vagina are rare and are either of inflammatory/reactive or neoplastic origin. A case of extraovarian Brenner tumour of the vagina in a postmenopausal woman, who presented with a vaginal polyp, is described. The polyp was excised and on histological examination, had the triphasic pattern (transitional, glandular and stromal) characteristic of Brenner tumour. The histogenesis of Brenner tumour is discussed in the context of this unusual location and the controversy of its origin.

Bright’s Disease

Bright's Disease: A condition where the parts of the kidneys that are responsible for filtering become inflamed and results in blood and proteins accidentally leaking into the urine. The condition can occur after certain infections and serious kidney dysfunction can result in severe or chronic complications.

Brittle bone syndrome lethal type

Brittle bone syndrome lethal type: A rare form of brittle bone disease caused by abnormal collagen production which results in weak bones which break easily. The condition can result in death, especially during the process of birth which can result in multiple severe fractures.

Broad beta disease

Broad beta disease: An inherited condition involving a defect in the transport of lipids which causes the development of lipid deposits (xanthomas) under the skin in certain parts of the body.

Broad-betalipoproteinemia

Broad-betalipoproteinemia (medical condition): An inherited condition involving a defect in the transport of lipids which causes the development of lipid deposits (xanthomas) under the skin in certain parts of the body.

Brody myopathy

Brody myopathy (medical condition): A form of neuromuscular disease caused by a genetic defect. The muscles have difficulty relaxing after exercise or strong movements such as making a fist or forcefully closing eyes.

Bronchiectasis

Bronchiectasis or primary ciliary dyskinesia is very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. The lack of ciliary movement can cause a lung disease called bronchiectasis where a build up of mucus causes infections and airway damage. The airways then become enlarged. The condition can become progressively worse with time and can result in serious breathing problems.

Bronchiectasis oligospermia

Bronchiectasis oligospermia: a rare syndrome characterized by the association of bronchiectasis (enlarged bronchial airways) and a defect in the sperm ducts which affects the number of sperm produced. Patients suffer frequent bacterial infections.

Bronchiolitis obliterans organizing pneumonia

Bronchiolitis obliterans organizing pneumonia (BOOP) is an inflammation of the bronchioles (bronchiolitis)and surrounding tissue in the lungs. BOOP is often caused by a pre-existing chronic inflammatory disease like rheumatoid arthritis. BOOP can also be a side effect of certain medicinal drugs, e.g. amiodarone. It is also known as cryptogenic organizing pneumonia (COP), though some sources recommend using the latter term, to reduce confusion with bronchiolitis obliterans.[

Bronchiolitis obliterans with obstructive pulmonary disease

Bronchiolitis obliterans with obstructive pulmonary disease(BOOP, oblitrative bronchiolitis, constrictive bronchiolitis), is a rare condition involving the inflammation and thickening of the internal lung structures (bronchioles) which affects breathing. It can be triggered by certain infections, drug reactions or for no obvious reason. The condition often progresses to cause serious respiratory problems or even death though the rate of disease progression is variable.

Bronchogenic cyst

Congenital bronchogenic cyst: A rare birth condition characterized by the formation of a cyst in the middle of the chest, usually near the area where the trachea branches off. The condition may be asymptomatic but if the cyst is large enough it may cause problems by compressing nearby structures such as the trachea.

Bronchopulmonary amyloidosis

Bronchopulmonary amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the bronchopulmonary form, the amyloid deposits occur mainly in the lungs.