Disease – Page 31 – CheckOrphan

Carpenter syndrome

Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner.

Carpo tarsal osteolysis recessive

Main name of condition: Thieffry and Sorrell Dejerine syndrome Other names or spellings for Thieffry and Sorrell Dejerine syndrome: Thieffry Kohler syndrome, osteolysis hereditary, osteolysis idiopathic multicentric, hyperhydroxyprolinemia-osteolysis, osteolysis hereditary-carpal bones-nephropathy, Carpo tarsal osteolysis recessive Thieffry and Sorrell Dejerine syndrome: A rare inherited syndrome characterized by kidney problems and progressive destruction of the wrist and ankle bones which may spread to adjoining bones.

Carpotarsal osteochondromatosis

Carpotarsal osteochondromatosis: A rare disorder characterized by a painless swelling in the ankles and wrists which restricts their range of motion. The swelling is caused by abnormal growths on the wrist and ankle bones. The number of joints involved is variable.

Carrington syndrome

Carrington syndrome (medical condition): A rare disorder where eosinophils (a type of white blood cell) accumulate in the lungs and cause problems. The symptoms occur gradually over a period of weeks or even months

Cartilage hair hypoplasia like syndrome

Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.

Cartilage-hair hypoplasia

Cartilage Hair Hypoplasia is a rare syndrome affecting the immune system and causing skeletal dysplasia. It is also known as Metaphyseal Chondrodysplasia-McKusick Type . CHH is a recessive gene which means that both parents would have to be carriers of the gene.

Cartilaginous neoplasms

Cartilaginous neoplasms: Tumors made up of cartilage tissue. The tumors may be benign or malignant and the symptoms will depend on the location and size of the tumors. The tumors can form on parts of the body such as the arm and leg bones or even in the pharynx. The tumors may cause no symptoms in some cases and are only discovered incidentally.

Cartwright Nelson Fryns syndrome

Cartwright-Nelson-Fryns syndrome: A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities.

Caspase-8 deficiency

Caspase-8 deficiency: A rare type of immunodeficiency disorder caused by a deficiency of caspase-8. Caspase-8 an important part of the immune system as it is involved in the activation of T lymphocytes, B lymphocytes and natural killer cells

Castleman’s disease

Castleman disease is a rare illness that affects your lymph nodes and other immune-cell structures of your body. It's classified as a lymphoproliferative disorder, which means it involves a proliferation, or overgrowth, of lymphatic cells. This makes it similar in many ways to cancers of the lymphatic system (lymphomas), which are also characterized by cell overgrowth. Castleman disease isn't considered a cancer, though. The disease is named after the American pathologist who first described it in the 1950s. Other names for Castleman disease are giant lymph node hyperplasia and angiofollicular lymph node hyperplasia. Castleman disease can occur in a localized or a more widespread form. Treatment and outlook depend on which type of Castleman disease you have.

Castro Gago Pombo Novo syndrome

Castro gago pombo novo syndrome: Another name for Microcephaly albinism digital anomalies syndrome (or close medical condition association). Castro gago pombo novo syndrome (medical condition): A rare inherited disorder characterized by a small head, lack of eye, skin and hair pigmentation and finger and toe abnormalities

Cat Eye syndrome

Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.

Cat Rodrigues syndrome

Cat Scratch Disease

Cat scratch disease: An infectious disease transmitted through a cat's bite, scratch or lick and resulting primarily in lymph node pain and swelling. The condition can be mild or severe

Catamenial pneumothorax

Catamenial pneumothorax: A collapsed lung that occurs at the same time as menstruation. The condition is believed to be caused by the presence of endometrial tissue in the chest cavity. The endometrial tissue produces blood (just as in the uterus) and can result in the lung collapsing. The lung tends to collapse within 3 days of the start of menstruation.

Cataplexy

Cataplexy: A rare condtion characterized by episodes of severe muscle weakness which can sometimes lead to a complete collapse - it usually occurs in people with a sleep disorder called narcolepsy.

Cataract and cardiomyopathy

Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.

Cataract and congenital ichthyosis

Cataract and congenital ichthyosis: A rare syndrome characterized by the presence of cataracts and a dry, scaly skin condition (ichthyosis) at birth or soon after.

Cataract anterior polar dominant

Cataract, anterior polar, dominant: A rare, dominantly inherited type of cataract which is characterized by small opacities on the front surface of the eye lens. Vision is usually not affected and the cataract is not associated with any other abnormalities. Type 1 is caused by a genetic defect on chromosome 14q24-qter.

Cataract ataxia deafness

Cataract - ataxia - deafness is a rare syndrome characterized by cataracts, ataxia and progressive deafness.

Cataract congenital autosomal dominant

Cataract, congenital, autosomal dominant: A dominantly inherited form of cataract.

Cataract congenital dominant non nuclear

Cataract congenital dominant non nuclear: A dominantly inherited form of cataract which varied in size, pattern and location of the lens opacities.

Cataract congenital Volkmann type

A dominantly inherited form of cataract that was observed in a family named Volkmann. Cataract surgery was required in most cases within the first 20 years of life.

Cataract dental syndrome

A very rare inherited condition mainly involving eye abnormalities but also various other physical abnormalities. The type and severity of symptoms is variable.

Cataract Hutterite type

An inherited form of cataract that occurs in children and is not associated with any other abnormalities.

Cataract hypertrichosis mental retardation

Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late-onset, generalized, localized, inherited or acquired. More than 50 different OMIM entries related to hypertrichosis exist, few of them with a localized gene locus or with a candidate gene. The review of generalized hypertrichoses from a historical point of view, including a review of their clinical and genetic features, shows heterogeneity with at least nine different entities. A short analysis of other forms of hypertrichosis is presented.

Diseases