What wrong with my child

[harper94uk]

Emily was born in 2006 with a few problems and extra/abnormal features:
Skin tags on face (one looks like it was going to form another ear)
Small ear canal with conductive hearing loss
Small eyes
Cyst on eye
Ears that have not formed properly
Unable to suck
Poor weight and growth
Talipese foot
Hip displacier
to name a few. she now has development delay of about a 1year old, she cannot stand or balance. Her spine has a slight curve at the top.

I had a diagnosis of Goldenhar Syndrome when she was born but since last year and because she has the development delay, her geneticist has said its NOT Goldenhar. They have tested for other things and checked her chromosomes and DNA etc but they are all normal.
They are stuck now as to what it is or could be. The genetics in Austria said it sound like Townes-Brocks Syndrome but here they said its not.

Can anyone shed some light for me as i am stressed with the lack of knowledge that these pofessionals!! have
Is there anywhere else like in the US that could help me.

[Jordanna Joaquina, MS, CGC]

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.

[Amyjo76]

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

[From_the_UK]

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)