Multiple Epiphyseal Dysplasia

Hi - My 15 mo. old daughter was just diagnosed with Multiple Epiphyseal Dysplasia.  The doctor really didn't give me any information other than she will have "lots of growing problems" and he referred me to a website with lots of medical jargon that I don't understand.  He is also referring her to Shand's for Genetic Counseling and confirmation of diagnosis.  Any explanation of what to expect and any possible symptoms, treatments, etc... that would help me understand what I'll be dealing with would be greatly appreciated.  Thanks in advance!!!!

[Lisa Kessler, MS, CGC]

It is good that you will be able to meet with a genetic counselor to learn more about this condition.  Genetic counselors will ask questions about your family health history and will construct and interpret your family tree.  It might be helpful for you to use the opportunity of an upcoming genetic counseling appointment to learn more about the health and medical conditions of your family members.   A genetic counseling session may also include a description of the condition that your daughter is being evaluated for, and a discussion of the availability of genetic testing including information about the benefits and limitations of the testing.

Your daughter will also probably be seen by a pediatric geneticist as part of the genetic counseling appointment.  This will involve a detailed physical exam and review of other studies such as X-rays that your daughter may have had.  

There are several types of Multiple Epiphyseal Dsyplasia.  The autosomal dominant form presents in early childhood.  Children with this condition can have hip and/or knee pain or may “waddle” when they are walking.  The diagnosis is often made when characteristic findings are seen on an X-ray in combination with findings from a clinical exam.  This condition can cause problems with the joints such as restricted range of movement and joint pain.  Treatment focuses on helping to relieve the joint pain.  
Best wishes to you and your daughter.