Learn About Crouzon Syndrome

What is the definition of Crouzon Syndrome?

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

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What are the causes of Crouzon Syndrome?

Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene are thought to result in production of an FGFR2 protein with overactive signaling, which causes the bones of the skull to fuse prematurely.

How prevalent is Crouzon Syndrome?

Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.

Is Crouzon Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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What are the latest Crouzon Syndrome Clinical Trials?
Supplementation of Autologous Fat Grafts With Curcumin Preconditioned Adipose-Derived Stem Cells in the Treatment of Facial Contour Deformities

Summary: The aim of this study is to evaluate the comparison of therapeutic potential of curcumin preconditioned adipose derived stem cells (ASCs) enrichment fat grafting, naïve ASCs enrichment fat grafting and conventional fat grafting to correct facial contour deformities that cause aesthetic complications in patients.

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Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation

Summary: The purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in serum cholesterol and reduction in harmful cholesterol precursors. SLOS participants will be treated with dietary cholic acid for 8 weeks and serum cholesterol and cholesterol precursor metabolites will be measured.

Who are the sources who wrote this article ?

Published Date: January 01, 2020Published By: National Institutes of Health

What are the Latest Advances for Crouzon Syndrome?
Long-term efficacy of glycopyrrolate on sialorrhea in Goldenhar syndrome: a case report.
Combination CPAP and bilateral hypoglossal nerve stimulation for obstructive sleep apnea in Treacher Collins syndrome: first case report.
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Correction of severe bifid nose deformity using an open W-shaped incision.