50 chance of transmitting the Bannayan gene to each of their children. The gene is on chromosome 10q23.3 and the mutation is now known to involve the phosphatase and tensin homolog gene called PTEN. A different mutation in PTEN causes Cowden disease which is a syndrome of multiple hamartomas (malformations resembling tumors composed of mature tissues), especially of the skin, mucous membranes, breast and thyroid.
The syndrome is named after the Jerusalem-born American pathologist George A. Bannayan who described a case with the disease in 1971. This may not have been the first description of the disease. In 1960 Harris D. Riley and William R. Smith had reported the same (or a remarkably similar) syndrome in a mother and 4 of her 7 offspring.
A condition in which the external sex organs are prematurely or abnormally enlarged. Macrogenitosomia is associated with hormonal disorders that may also create changes in the internal sex organs.
A condition in which the blood contains high levels of large proteins. If the levels are too high the blood may become too thick or viscous and thus become too thick to flow through small blood vessels. The large protein is an antibody called macroglobulin or IgM. One type of macroglobulinemia is Waldenström’s macroglobulinemia, a […]
- Macroglobulinemia, Waldenstrom
An abnormally large tongue. Macroglossia is sometimes said to be associated with Down syndrome, but in that disorder the tongue is actually large only in relationship to a smaller-than-normal mouth cavity.
An abnormally large jaw. Macrognathia can be associated with pituitary gigantism, tumors, and other disorders. Macrognathia can often be corrected with surgery. Also known as prognathic mandible.