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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. 

Acknowledgement of XP22.31 deletion syndrome has not been added yet.

Rare/unknown.

Synonyms for XP22.31 deletion syndrome has not been added yet.
Cause of XP22.31 deletion syndrome has not been added yet.

Undescended testicles, x-linked itchyosis

Name Description
Seizures Seizures
(R) Developmental Delays Development Delays vary
Diagnosis of XP22.31 deletion syndrome has not been added yet.
Diagnostic tests of XP22.31 deletion syndrome has not been added yet
Treatments of XP22.31 deletion syndrome has not been added yet.
Prognosis of XP22.31 deletion syndrome has not been added yet.
Tips or Suggestions of XP22.31 deletion syndrome has not been added yet.
References of XP22.31 deletion syndrome has not been added yet.
Anyone out there? Created by AlisonCizowski
Last updated 19 Feb 2019, 10:01 PM

Posted by AlisonCizowski
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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Anyone out there?

Created by AlisonCizowski | Last updated 19 Feb 2019, 10:01 PM


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