Perfectly Parker

A little blog about a wonderful child

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Author: strangevistas

November 22, 2023 strangevistas

One small step for Parker…

July 11, 2023July 11, 2023 strangevistas

The second (and hopefully last) EUA

May 8, 2023 strangevistas

15 month update

April 24, 2023 strangevistas

April Update

March 1, 2023March 1, 2023 strangevistas

Retinopathy examination update

February 8, 2023 strangevistas

EEG and MRI results

February 2, 2023February 2, 2023 strangevistas

Welcome to our blog

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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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