Beckwith- Wiedemman syndrome is one possible diagnosis and its diagnosis is important to make because of possible associated tumors. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/
Proteus syndrome is an overgrowth condition affecting skin, bones, soft tissues, and other organs. It may be asymmetrical. This condition is exceedingly rare (1 in 1,000,000) and is related to a genetic abnormality (not inherited). http://ghr.nlm.nih.gov/condition/proteus-syndrome
Klippel- Trenaunay Weber Syndrome. KTW is characterized by port wine stains on the skin, extra bone and soft tissue growth, and varicose veins. Classically associated with vascular malformations. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001205/
Neurofibromatosis is a condition with numerous nerve tumors which may grow rapidly. Type 1 is more common and is associated with cafe au lait spots on the skin. http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm
The orthopaedic surgeon or pediatrician often makes the diagnosis of hemihypertrophy but a geneticist is usually involved for full evaluation of the possible associations. My role in hemihypertrophy is to provide information, refer families to geneticists and other providers, help make the appropriate diagnosis, and arrange referral or testing to rule out the rarely associated tumors (such as Wilms tumor). Surgery for hemihypertrophy can sometimes be helpful to control growth (by limiting the growth plates) or to debulk enlarged areas. Sometimes amputations are the best course of action. Surgery is a difficult decision as our options are not ideal and the effectiveness of surgery is also limited.
|One example of hemihypertrophy|