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goldenhar syndrome, anyone else?

Posted by on Feb. 14, 2014 at 3:19 PM
  • 5 Replies
Lillian has a suspected case of goldenhar syndrome. Anyone have a child that's been diagnosed?
by on Feb. 14, 2014 at 3:19 PM
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Replies (1-5):
Anonymous
by Anonymous 1 on Feb. 14, 2014 at 4:01 PM

What is it?

LilysMama719
by Emmy on Feb. 14, 2014 at 4:06 PM
No, but here is a bump.
firespurity
by on Feb. 14, 2014 at 5:10 PM
I'm not a hundred percent. Or meeting with genetics isn't for two more weeks.

Quoting Anonymous:

What is it?

firespurity
by on Feb. 14, 2014 at 5:10 PM
Thanks

Quoting LilysMama719: No, but here is a bump.
Anonymous
by Anonymous 2 on Feb. 14, 2014 at 5:13 PM

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that while it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes).Deafness/blindness in one or both ears/eyes. Granulosa cell tumors may be associated as well.

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