CROUZON SYNDROME
Our bodies are made up of a collection of microscopic cells that work together to help us grow, develop, and maintain bodily function. They do this by following instructions encoded in our DNA. In some people, these instructions are altered and result in changes in development - one of these changes leads to Crouzon Syndrome.
Crouzon Syndrome is a rare genetic disorder that affects approximately 1 in 60000 births worldwide, and is caused by changes in the Fibroblast Growth Receptor Gene (FGFR2). [1]
This website aims to explain how small changes in the code that tells our body how to work can result in the complex disorder that is Crouzon Syndrome
Symptoms
Crouzon syndrome can result in various symptoms that vary from individual to individual. The most common ones are listed below. [1,2]
Irregular head shape
Tall or bulging forehead
Bulging eyes due to shallow eye sockets
Eye misalignment or large distance between eyes
Underdevelopment of upper jaw, underbite
Parrot-beaked nose
Hearing difficulties
Tall forehead, and overall tall head compared to width
The only current treatment option is a surgery to relieve any pressure on the brain created by irregular skull growth.
Figure 1. Baby with Crouzon Syndrome showing typical symptoms. [3]
References
Online Mendelian Inheritance in Man, OMIM. Baltimore (MD): Johns Hopkins University; 1986. Entry #123500 Crouzon Syndrome; [updated 2019 May 15; cited 2022 Oct 21]; Available from: https://www.omim.org/entry/123500
Hoefkens MF, Vermeij-Keers C, Vaandrager JM. Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype. J Craniofac Surg. [Internet] 2004 [cited 2022 Oct 21];15(2):233-40. Available from: https://pubmed.ncbi.nlm.nih.gov/15167238/
Centre for Medical Genetics & Genomics. Baby with Crouzon Syndrome. [Image on internet]. 2020 [updated 2020 Jan 17; cited 2022 Oct 21]. Available from: https://intergenetics.eu/wp-content/uploads/2019/12/160108125613D4YUy-1.jpg