Diseases

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.

Bd syndrome

A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.

Beardwell syndrome

A very rare syndrome characterized primarily by abnormal calcium deposits along the vertebrae as well as the development of calluses on the palms and soles.

Bebe Collodion syndrome

A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control body temperature. The tight skin can also affect breathing and feeding ability or impair blood supply to limbs. In mild cases the underlying skin may be normal. 10% of cases resolve themselves within a few weeks of birth.

Becker muscular dystrophy

Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. It is a type of dystrophinopathy, which includes a spectrum of muscle diseases in which there is insufficient dystrophin produced in the muscle cells, resulting in instability in the structure of muscle cell membrane.

Becker’s nevus

Becker's nevus (also naevus; pl. nevi or naevi) is a skin disorder predominantly affecting males. The nevus generally first appears as an irregular pigmentation (melanosis or hyperpigmentation) on the torso or upper arm (though other areas of the body can be affected), and gradually enlarges irregularly, becoming thickened and often hairy (hypertrichosis)

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder present at birth characterized by an increased risk of childhood cancer and certain features. Five common features used to define BWS are: macroglossia (large tongue), macrosomia (birth weight and length >90th percentile), midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth)

Bednar’s tumor

A rare aggressive skin tumor that develops in the skin. The tumor consists of melanin-producing cells which increases the skins pigmentation in the affected area. Metastasis is rare but it often regrows after being surgically removed. It occurs mostly on the trunk, shoulders and chest.

Beemer Ertbruggen syndrome

A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.

Behcet uveitis

Behçet disease is an autoimmune disease that results from damage to blood vessels throughout the body, particularly veins. The immune system normally protects the body against infections through controlled inflammation In an autoimmune disease, it becomes overactive, produces unpredictable outbreaks of exaggerated inflammation and attacks and harms the body's own tissues.

One symptom of Behçet disease is an inflammation of the eye, which is called Behçet's uveitis (also known as Ocular Behçet's disease). This can lead to severe visual loss and even blindness if left untreated.

For more information on Behçet disease, please refer to its main page on CheckOrphan.

Source: National Eye Institute; Toker et al., Br J Ophthalmol. 2002 May; 86(5): 521–523 (British Journal of Ophtalmology)

Behçet’s Disease

Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes.
Painful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores occur on the lips and tongue and inside the cheeks. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women.

Behçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the face, neck, and arms.

An inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness.

Less commonly, Behçet disease can affect the joints, gastrointestinal tract, large blood vessels, and brain and spinal cord (central nervous system). Central nervous system abnormalities are among the most serious complications of Behçet disease. Related symptoms can include headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement.

The signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting many parts of the body, including the central nervous system. The features of Behçet diseasetypically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.

Behr syndrome

Behr's syndrome (a.k.a. Behr's disease) is a genetic disorder named after Carl Behr, who first described it in 1909. It is an autosomal recessive disorder, although heterozygotes may still manifest much attenuated symptoms.

Bejel

Bejel, also known as endemic syphilis, is a chronic but curable disease, seen mostly in children in arid regions. Unlike the better-known venereal syphilis, endemic syphilis is not a sexually transmitted disease.

Bell’s Palsy

Bell‘s palsy is a form of facial paralysis resulting from a dysfunction of the cranial nerve VII causing an inability to control facial muscles on the affected side. If no specific cause (i.e. brain tumor, stroke, maysthenia gravis, Lyme disease) is found, the condition is known as Bell‘s palsy. 

Bell‘s palsy is the most common accute mononeuropathy. It is the most common cause of acute facial nerve paralysis.  

Ben Ari Shuper Mimouni syndrome

A very rare syndrome characterized mainly by short stature, developmental delay and trigonocephaly (premature fusion of skull bones giving the forehead a triangular shape).

Bencze syndrome

A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.

Benign autosomal dominant myopathy

Bethlem myopathy is an apparently rare early-onset benign autosomal dominant limb-girdle myopathy with contractures of the fingers. To determine whether this disorder is unrecognized rather than rare we used muscle computerized tomography (CT) and isokinetic muscle testing and assiduously sought contractures of the fingers in relatives of two patients with the disease.

Benign congenital hypotonia

A rare condition where an infant has a severe lack of muscle tone which progressively improves and usually disappears within 10 years.

Benign essential blepharospasm

Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by abnormal blinking or spasms of the eyelids. It is a form of dystonia, a group of movement disorders involving uncontrolled tensing of the muscles (contractions), rhythmic shaking (tremors), and other involuntary movements. BEB occurs in both men and women, although it is especially common in middle-aged women.

Initial symptoms include an increased frequency of blinking, dry eyes, and eye irritation. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting and increasing difficulty keeping eyes open, which can lead to vision impairment. In more than half of all people with BEB, the symptoms affect other facial muscles and muscles in other areas of the body. When people with BEB also experience involuntary muscle spasms affecting the tongue and jaw, this is known as Meige syndrome. The cause of BEB is unknown; however, some cases appear to run through families. Although there is no cure for BEB, symptoms can be treated using various methods including botulinum toxin injections.

Benign familial hematuria

Thin basement membrane disease (TBMD, also known as benign familial hematuria and thin basement membrane nephropathy) is, along with IgA nephropathy, the most common cause of asymptomatic hematuria. The only abnormal finding in this disease is a thinning of the basement membrane of the glomeruli in the kidneys.

Benign familial infantile epilepsy

Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified

Benign familial neonatal-infantile seizures

A rare dominantly inherited form of seizures that occurs during the first year of life. The seizures tend to occur in clusters. The seizures involved limb twitching, averted head, eye-blinking and lip smacking. No neurological or developmental problems are associated with this disorder.