Diseases

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).

 

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.

Camptodactyly syndrome Guadalajara type I

A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.

Camptodactyly taurinuria

A rare disorder characterized by high urinary levels of taurine as well as a hand malformation. A flexion deformity of the finger where the finger is bent and unable to straighten.

Camptodactyly vertebral fusion

A rare disorder characterized mainly by the association of a permanently flexed finger (usually the little finger) and fused vertebrae.

Camptodactyly- tall stature- and hearing loss syndrome

A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.

Camptodactyly-ichthyosis syndrome

A rare syndrome characterized mainly by permanently bent fingers giving them a windmill-vane appearance as well as dry, scaly skin.

Camptomelic syndrome long limb type

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and incomplete development of genitalia in males such that they appear to be females.

Camurati Engelmann disease- type 2

Camurati-Engelmann Disease (CED) is a form of dysplasia and a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. Patients typically have heavily-thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, sometimes leading to sensory deficits such as blindness, or deafness.

Camurati-Engelmann disease

Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, severe limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.

Canavan disease

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers.

Candidiasis familial chronic mucocutaneous- autosomal recessive

Chronic mucocutaneous candidiasis (CMC) refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial infections of the skin, mucous membranes, and nails with Candida organisms, usually Candida albicans. These disorders are confined to the cutaneous surface, with little propensity for systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic presentation of a spectrum of immunologic, endocrinologic, and autoimmune disorders.

CANOMAD syndrome

A rare syndrome characterized by a range of abnormalities caused by immune-mediated nerve demyelination. There is usually no loss of limb function associated with the disorder. The face, throat, mouth and eye symptoms (weakness of the muscles) usually come and go