Following Amy's comments I thought I would expand a bit on the CHARGE possibility. There is a genetic test available, whereby they look for CHD07 on cromosone 8. Even if your child does not come back possitive for this mutation they still can have CHARGE syndrome by association.
Key points are :-
Coloboma
Heart defect
Artesia
Retardation of growth / development
Genital (more common in boys)
Ears (defect visably and inner ear under development)
Emily sounds a bit like my daughter. She has similarities to Goldenhar and Townes Brocks Syndrome. We are waiting for test results of TBS, I have my doughts, but worth a try. You see my daughter has been undiagnosed for 12 years, born with very unique sings and symptoms but don't fit into a diagnosis. There is a new program called Undiagnosed Diseases Program, we recently went there and are awaiting results of new testing. With all the year of doctors and tests, I no long get my hopes of for understanding what it is that affects my daughter in so many ways.
I don't wish this long diagnostic journey on anyone, which is why I have founded Syndromes Without A Name USA. www.undiagnosed-usa.org . To give resources and help for those with children that continue to stump the doctors.
I would be interested in talking with you more about our daughters similarities. She has very unique ears. Another potential diagnosis that was questioned for her from very early on is CHARGE syndrome, since new testing is available we are waiting to see if anything comes from that.
Amy
It must be extremely frustrating not having a diagnosis for your daughter. Without a diagnosis it can be difficult to find reliable information about your child's condition as well as proper health professionals/specialists and support for your family.
As a child ages, new signs and symptoms sometimes appear, which may alter diagnosis, rule out a diagnosis or become more suggestive of a different diagnosis. In addition, many disorders have similar features and symptoms, making diagnosis difficult. Some disorders are also so rare that they have only been documented in a couple of families or affected people.
As new genetic technologies become available and the science of genetics evolves, we will hopefully have the ability to identify the genetic cause(s) of abnormalities in many individuals without a diagnosis. We recommend that you and your daughter continue to follow-up with your child's medical geneticist. We wish you and Emily the best.