XP22.31 deletion syndrome
What is XP22.31 deletion syndrome?
XP22.31 deletion which carries an unknown prognosis, is characterized by skin conditions (itchyosis) from lack of Steroid Sulfatase, undescended testicles, seizures and learning/developmental issues.
XP22.31 deletion which carries an unknown prognosis, is characterized by skin conditions (itchyosis) from lack of Steroid Sulfatase, undescended testicles, seizures and learning/developmental issues.
Rare/unknown.
Undescended testicles, x-linked itchyosis
| Name | Description |
|---|---|
| Seizures | Seizures |
| (R) Developmental Delays | Development Delays vary |
Last updated 19 Feb 2019, 10:01 PM
19 Feb 2019, 10:01 PM
Hello! I created this board in the hopes that there may be others out there that have children - or have themselves - been diagnosed with XP22.31 deletion syndrome. My son, who is 2.5 years old, was diagnosed with the deletion when he was about a month old. Despite seeing genetics at multiple hospitals - as well as being followed by many other doctors - there is not much known about his condition at all. Now that he's getting older, his delays are much more obvious and I want to help him as much as possible. He is currently seen by five specialists in early intervention a week, and is working still on walking, talking and eating solid foods. He has had four surgeries - one for pyloric stenosis (4 months) and three for undescended testicles, and has been diagnosed with nystagmus, FPIES and X-linked icthyosis. He also has sensory issues.
If you're out there, I'd love to compare notes on experiences, other symptoms and things that have helped!
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Created by AlisonCizowski | Last updated 19 Feb 2019, 10:01 PM
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