Disease – Page 28 – CheckOrphan

Buschke Ollendorff syndrome

A rare skin disease characterised by a firm, flesh-coloured or slightly yellowish eruption distributed symmetrically on the trunk and extremities, and induration of the skin and subcutaneous tissues. Foci of dense bone seen on x-rays, particularly in the pelvis and extremities, are the principal symptoms of osteopoikilosis. It is a sequelae to some type of acute infectious process. Both sexes affected. Inheritance is autosomal dominant with high penetrance and variability of expression.

Bustos Simosa Pinto Cisternas syndrome

Buttiens Fryns syndrome

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known

Butyrylcholinesterase deficiency

Butyrylcholinesterase deficiency (medical condition): A metabolic disorder involving an enzyme (butyrylcholinesterase) deficiency. It results in prolonged recovery from the effects of certain anesthetics such as succinylcholine and mivacurium which are muscle relaxants. The severity of the deficiency will determine the length of time taken to recover from anesthetic. In severe cases, patients can take more than 8 hours to recover.

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Byssinosis

Byssinosis, also called "brown lung disease" or "Monday fever", is an occupational lung disease caused by exposure to cotton dust in inadequately ventilated working environments.[1] It is not the cotton dust directly that causes the disease, it is endotoxins that come from the cell walls of gram negative bacteria that grow on the cotton that cause the disease. It commonly occurs in workers who are employed in yarn and fabric manufacture industries. Brown lung can ultimately result in narrowing of the trachea in the lungs, destruction of lung tissue and death from infection or respiratory failure.

C-syndrome

C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severeintellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

C3 Glomerulopathy

C3 glomerulopathy (also known as Dense Deposit Disease, C3 Glomerulonephritis,DDD, C3GN, and C3G) refers to a group of related rare conditions that cause the kidneys to malfunction. The prevalence of C3G is estimated to be 2-3 per 1,000,000 people. There are two major forms of C3G and they are recognised as dense deposit disease (DDD) and C3 glomerulonephritis (C3GN). These rare kidney conditions are characterized on a renal biopsy test called ‘immunofluorescence’ by an abundance of a protein called Complement 3 (C3) in the renal glomeruli. In DDD, extremely dense ‘sausage-like’ deposits are observed in the glomerular basement membrane (GBM) using electron microscopy. Whereas in C3GN, the deposits are lighter in color and are more widespread in location, but on immunofluorescence, as with DDD there is an abundance of C3 in the renal glomeruli. Both forms are known to cause similar kidney problems, however the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. The signs and symptoms of either disease may not fully develop until adulthood. C3G is known to affect persons of all age. The major features of C3G include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.

CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy).

Damaged blood vessels reduce blood flow and can cause areas of tissue death (infarcts) throughout the body. An infarct in the brain can lead to a stroke. In individuals with CADASIL, a stroke can occur at any time from childhood to late adulthood, but typically happens during mid-adulthood. People with CADASIL often have more than one stroke in their lifetime. Recurrent strokes can damage the brain over time. Strokes that occur in the subcortical region of the brain, which is involved in reasoning and memory, can cause progressive loss of intellectual function (dementia) and changes in mood and personality.

Many people with CADASIL also develop leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).

The age at which the signs and symptoms of CADASIL first begin varies greatly among affected individuals, as does the severity of these features.

CADASIL is not associated with the common risk factors for stroke and heart attack, such as high blood pressure and high cholesterol, although some affected individuals might also have these health problems.

Cafe au lait spots- multiple

It is a flat, pigmented birthmarks. The name café au lait is French for "coffee with milk" and refers to their light-brown color. They are also called "giraffe spots" or "coast of Maine spots". They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. These spots are typically permanent, and may grow or increase in number over time. They are often harmless, but may be associated with syndromes such as Neurofibromatosis Type 1 and McCune-Albright syndrome.

Caffey disease

Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.

The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. In rare cases, skeletal abnormalities can be detected by ultrasound imaging during the last few weeks of development before birth. Lethal prenatal cortical hyperostosis, a more severe disorder that appears earlier in development and is often fatal before or shortly after birth, is sometimes called lethal prenatal Caffey disease; however, it is generally considered to be a separate disorder.

For unknown reasons, the swelling and pain associated with Caffey disease typically go away within a few months. Through a normal process called bone remodeling, which replaces old bone tissue with new bone, the excess bone is usually reabsorbed by the body and undetectable on x-ray images by the age of 2. However, if two adjacent bones have fused, they may remain that way, possibly resulting in complications. For example, fused rib bones can lead to curvature of the spine (scoliosis) or limit expansion of the chest, resulting in breathing problems.
Most people with Caffey disease have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. In addition, some adults who had Caffey disease in infancy have other abnormalities of the bones and connective tissues, which provide strength and flexibility to structures throughout the body. Affected adults may have loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to protrusion of organs through gaps in muscles (hernias).

CAHMR syndrome

Calabro syndrome

Calcifying Epithelial Odontogenic Tumor

The calcifying epithelial odontogenic tumor, also known as a Pindborg tumor or CEOT, is an odontogenic tumor first recognized by the Dutch pathologist Jens Jørgen Pindborg in 1955. It was previously described as an adenoid adamtoblastoma, unusual ameloblastoma and a cystic odontoma. Like other odontogenic neoplasms, it is thought to arise from the epithelial element of the enamel origin.

It is a typically benign and slow growing, but invasive neoplasm. Intraosseous tumors (tumors within the bone) are more likely (94%) versus extraosseus tumors (6%). It is more common in the posterior mandible of adults, typically in the 4th to 5th decades. There may be a painless swelling, and it is often concurrent with an impacted tooth. On radiographs, it appears as a radiolucency (dark area) and is known for sometimes having small radiopacities (white areas) within it. In those instances, it is described as having a "driven-snow" appearance. Microscopically, there are deposits of amyloid-like material. The underlying nature of the amyloid-material is still unresolved. Clinically it has two types, the central and the peripheral. The central type of the CEOT occurs in individuals ranging in age from 20–60 years. Two-thirds of the lesions are in jaws, more commonly in the molar area with a tendency to occur in the pre-molar areas. It appears clinically to be a slowly enlarging painless mass. In the maxilla it can cause proptosis, epistaxis and nasal air way obstruction.

The peripheral type is commonly found in the anterior region of the maxilla and occurs as a soft tissue swelling. Histopathology will reveal prominent intercellular bridges and nuclear changes such as pleomorphism, hyperchromatism and prominent nucleoli. The mitotic figures are rare. Spread throughout the epithelium and connective tissue are spherical amorhpous calcifications.

Calciphylaxis

Calciphylaxis, or calcific uremic arteriolopathy (CUA), is a syndrome of vascular calcification, thrombosis and skin necrosis. It is seen mostly in patients with Stage 5 chronic kidney disease, but can occur in the absence of renal failure. It results in chronic non-healing wounds and is usually fatal. Calciphylaxis is a rare but serious disease, believed to affect 1-4% of all dialysis patients.

Calciphylaxis is one type of extraskeletal calcification. Similar extraskeletal calcifications are observed in some patients with hypercalcemic states, including patients with milk-alkali syndrome, sarcoidosis, primary hyperparathyroidism, and hypervitaminosis D.

Callosogenital dysplasia

A rare syndrome characterized by the total absence of the brain structure that connects the two halves of the brain (corpus callosum) as well as absent menstruation and coloboma.

Calvarial hyperostosis

An excessive growth of bone, which may lead to formation of a mass projecting from a normal bone (exostosis). This abnormality may be seen in numerous musculoskeletal disorders. A widespread form of hyperostosis characterized by flowing calcification and ossification of vertebral bodies occurs in diffuse idiopathic skeletal hyperostosis DISH . Radiographic abnormalities are observed most commonly in the thoracic spine.

Camera-Marugo-Cohen syndrome

A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.

CAMFAK syndrome

CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The disease may occur with or without failure to thrive and arthrogryposis.

Campomelia Cumming type

A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.

Campomelic dysplasia

Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.

The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.

Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries.
Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People withcampomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants withcampomelic dysplasia.

Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.

Camptobrachydactyly

A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position.

Camptocormism

Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders.

Camptodactyly joint contractures and facial skeletal dysplasia

It is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia) permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision.

Diseases