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Carney syndrome

Carney syndrome, CNC1, Carney myxoma-endocrine complex, CAR, Myxoma, spotty pigmentation, and endocrine overactivity; NAME syndrome, LAMB syndrome, Myxoma - spotty pigmentation - endocrine overactivity, Myxoma-spotty pigmentation-endocrine overactivity syndrome

Overview

Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. The development of multiple benign tumors (myxoma) that can occur just about anywhere in the body but mainly in the skin, breast and heart and endocrine glands such as the thyroid and pituitary gland. The symptoms are highly variable depending on the location, size and number of tumors. Endocrine gland tumors can affect hormone production and hence result in a range of symptoms. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent.

Symptoms - Carney syndrome

  • Spotted pigmentation on skin
  • Acromegaly
  • Blue skin spots
  • Benign tumors
  • Pigmented micronodular adrenocortical disease
  • Multiple lentigines

Causes - Carney syndrome

Not supplied.

Prevention - Carney syndrome

Not supplied.

Diagnosis - Carney syndrome

Not supplied.

Prognosis - Carney syndrome

Not supplied.

Treatment - Carney syndrome

Not supplied.

Resources - Carney syndrome

  • NIH
Orphan Therapies
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