Diseases

Bardet-Biedl syndrome 9

Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.

Bare lymphocyte syndrome

Bare lymphocyte syndrome: An inherited immunodeficiency disorder characterized by T- and B-cell dysfunction (these cells are essential for helping fight infection). Lack of treatment can result in infant death from infection

Baritosis

Baritosis: A lung condition caused by breathing in barium dust or barium containing compounds. It is generally a benign condition that doesn't cause symptoms other than irritation

Barnicoat Baraitser syndrome

Barnicoat-Baraitser syndrome: A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size

Barre Lieou syndrome

Barre-Lieou syndrome: A rare condition where trauma (such as pinching by adjacent vertebrae or arthritis) to the sympathetic nerves located in the spinal area of the neck results in a variety of neurological symptoms.

Barth syndrome

Barth syndrome (BTHS, also known as 3-Methylglutaconic aciduria type II), is an X-linked genetic disorder. The disorder, which affects multiple body systems, is diagnosed almost exclusively in males. It is named after Dutch pediatric neurologist Peter Barth.

Bartsocas Papa syndrome

Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities

Bartter syndrome- antenatal- type 1

Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.

Bartter syndrome- antenatal- type 2

Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance

Bartter syndrome- type 3

Bartter's syndrome, type 3: A rare condition characterized by an electrolyte imbalance caused by mutations of the chloride channel gene (ClCNKb). It differs from Bartter's syndrome type I and type II in the absence of nephrocalcinosis. The severity of the condition is greatly variable

Bartter’s syndrome

Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.

Basal cell carcinoma- multiple

Basal cell carcinoma is a type of skin cancer. It is the most common of all types of skin cancers. About 3 out of 10 caucasians can expect to develop a basal cell cancer in their lifetime in the United States

Basal ganglia calcification- idiopathic 2

Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable.

Basal ganglia disease- biotin-responsive

Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe cogwheel rigidity, dystonia, quadriparesis, and eventual death, if left untreated

Basan syndrome

A rare condition characterized by skin, hair and nail abnormalities

Basaran Yilmaz syndrome

Behçet disease is a chronic condition due to disturbances in the body’s immune system. This system, which normally protects the body against infections through controlled inflammation, becomes overactive and produces unpredictable outbreaks of exaggerated inflammation.

Basedow’s coma

Profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused; coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem.

Basilar artery migraines

A rare condition characterized by headache associated with a variety of neurological symptoms. The condition is caused by a disturbance of the basilar artery which is located in the brainstem.

Basilar impression primary

A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus)

Bassoe syndrome

Chronic pain of unknown aetiology, and characterized by cutaneous trigger points, has been coined the skinache syndrome. The treatment of the skinache syndrome was evaluated in 94 patients by two independent methods 2 years after treatment. After one subcutaneous injection of lidocaine 68% of the patients were cured. The pain recurred in 27 patients having suffered for an average of 2 years. Surgical removal of the cutaneous trigger points cured 77% of the latter patients.

Battaglia Neri syndrome

A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome

Batten disease

Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease, CLN3 and JNCL) is an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood. Batten disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called the ceroid lipofuscinosis neuronal or CLNs. Although Batten disease originally referred specifically to the juvenile form of CLN (JNCL), the term Batten disease is increasingly used by pediatricians to describe all forms of CLN.

Batten disease and other forms of CLN are relatively rare, occurring in an estimated 2 to 4 of every 100,000 live births in the United States. These disorders appear to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada. Although CLNs are classified as rare diseases, they often strike more than one person in families that carry the defective genes.

At least twenty genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene.

Batten Turner muscular dystrophy

A benign form of congenital muscular dystrophy involving relatively minor muscle wasting. The condition progresses slowly until adulthood.

Baughman syndrome

Curly hair-ankyloblepharon-nail dysplasia syndrome (CHANDS) is an extremely rare genetic disorder. The syndrome affects the outer layer (ectoderm) of a developing fetus. As a result, eyes, skin, nails, and hair may be underdeveloped or malformed. Also referred to as Baughman syndrome, less than five cases are reported to exist.1

Bazex-Dupre-Christol syndrome

A very rare syndrome characterized by decreased hair growth, basal cell cancers and destruction of skin follicles which tends to affect the extremities, elbows and knees.