Perfectly Parker

A little blog about a wonderful child

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Author: personalparadox

Nunya
November 27, 2023 personalparadox

Mondays are for PT

October 3, 2023 personalparadox

So, a few things

April 5, 2023April 5, 2023 personalparadox

Whirlwind Week

February 16, 2023 personalparadox

Strabismus follow up

February 10, 2023 personalparadox

Strabismus Surgery

  • November 2023
  • October 2023
  • July 2023
  • May 2023
  • April 2023
  • March 2023
  • February 2023

What is CTNNB1 Syndrome?

CTNNB1 Syndrome is an extremely rare genetic mutation with only about 300 known cases worldwide. The CTNNB1 portion of the third chromosome in human DNA is responsible for the creation of beta-catenin, a protein that plays a role in cell connections and communication. There is a wide spectrum of mutations that are possible, resulting a span of different symptomology, but many who suffer from CTNNB1 Syndrome suffer from strabismus, dystonia, and physical and intellectual development issues, include speech and walking.

You can learn more about CTNNB1 Syndrome here.

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