Genetic condition awaiting consideration - Hereditary Multiple Exostoses Type II
Hereditary multiple exostoses is a condition in which people develop multiple bone tumors called exostoses, these are generally not cancerous. Children are not born with extoses but 96 percent of affected children will develop exostoses by the time they are 12 years old, when they reach adult height and their bones stop growing, the development of new exostoses usually also stops. The number of exostoses which develop and where they are located varies greatly, but they often form at the end of long bones and on flat bones, such as the hip and shoulder blade.
Multiple exostoses may cause problems with growth of the arms, hands, and legs; often unequally on each side of the body, leading to short stature and different limb lengths. Other changes include: bowing of the forearms; ankles and abnormal development of the hip joints (hip dysplasia). These lead to difficulty walking and general discomfort. Multiple exostoses may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the exostoses.
People with hereditary multiple exostoses have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous exostoses.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 31 May 2013