Discussions By Condition: I cannot get a diagnosis.

Undiagnosed x-linked genetic disorder

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: danielina1
  • December 26, 2008
  • 00:41 AM

Hi Everyone,
I have a nephew and 2 brothers with an undiagnosed genetic disorder. They all have the same symptoms and my family would love some answers. My nephew was born with patent ductus arteosis, moderate puliminary valvular stenosis, moderate perimembranous ventral septum defect and small to moderate vsd. He has subtle micrognathia, wide spaced eyes, prominent forehead, a striae pattern on his abdomen, motor delay, mental delay, microcephalic, his head, hands and feet are within in the 3 percentile on the small end. His height is at the 95 percentile. He has a high palate, hypotonia and a left ear pit. He has underdeveloped optic nerves, nystagmus, and near-sighted. He had a slightly elevated calcium level when he was on high calorie formula after his heart surgery at 3 months old. My nephew is now 4 years old is still not walking. He has just started sitting up on his own. He only says a few words and mostly babbles. They have been tested for Williams Syndrome, Fragile X, myotonic dystonia and a few others. Any input would be appreciated.

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