Diseases

Cortical defects- wormian bones- and dentinogenesis imperfecta

Osteogenesis imperfecta is one of the most common skeletal dysplasias. It is a generalized disease of connective tissue that may manifest itself with one or more of the following findings: blue sclerae, triangular facies, macrocephaly, hearing loss, defective dentition, barrel chest, scoliosis, limb deformities, fractures, joint laxity, and growth retardation. Additional features, such as constipation and sweating, may also occur. A multidisciplinary approach is required to manage the disease

Corticobasal degeneration

orticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses

Cortisone reductase deficiency

An inborn error of steroid metabolism due to a deficiency of an enzyme called cortisone reductase (11@beta-hydroxysteroid dehydrogenase). This enzyme is needed to convert cortisone to cortisol.

Costello syndrome

Costello syndrome is a genetic disorder that affects many parts of the body. This condition is characterized by delayed development and mental retardation, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but have difficulty feeding and grow more slowly than other children. Later in life, people with this condition have relatively short stature and many lack growth hormone.

Cote Katsantoni syndrome

A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.

Covesdem syndrome

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.

Cowchock syndrome

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.

Cowden syndrome

Cowden syndrome, is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.

Cowden syndrome is associated with mutations in PTEN, a tumor suppressor gene, that cause the PTEN protein not to work properly leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). In addition, there is a predisposition to breast carcinoma, follicular carcinoma of the thyroid, and endometrial carcinoma.

Coxa vara- congenital

A Coxa vara is a deformity of the hip, whereby the angle between the ball and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened, and therefore a limp occurs. It is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, meaning it bends under the weight of the body. This may either be congenital, also known as Mau-Nilsonne Syndrome, or the result of a bone disorder.

Coxoauricular syndrome

A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness.

Cramp-fasciculations syndrome

A rare condition characterized by muscle pain, cramps, twitching, spasms and other abnormal sensations that occur mainly in the limbs.

Crandall syndrome

A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency.

Cranio osteoarthropathy

A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.

Craniodiaphyseal dysplasia

Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy.

Cranioectodermal dysplasia

A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities.

Craniofacial dyssynostosis

A very rare syndrome characterized primarily by the premature fusion of certain skull bones which gives the head an abnormal shape and also causes unusual facial features.

Craniofrontonasal dysplasia

Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such as the forehead, nose, and chin.