Learn About Saethre-Chotzen Syndrome

What is the definition of Saethre-Chotzen Syndrome?

Saethre-Chotzen syndrome is a genetic condition 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 Saethre-Chotzen Syndrome?

Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The TWIST1 protein is active in cells that give rise to bones, muscles, and other tissues in the head and face. It is also involved in the development of the limbs.

How prevalent is Saethre-Chotzen Syndrome?

Saethre-Chotzen syndrome has an estimated prevalence of 1 in 50,000 people.

Is Saethre-Chotzen 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. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

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What are the latest Saethre-Chotzen Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.~Increased...
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Who are the sources who wrote this article ?

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

What are the Latest Advances for Saethre-Chotzen Syndrome?
Frontofacial Reconstruction Technique Modification With Preservation of Blood Supply to the Monobloc Segment.
Summary: Frontofacial Reconstruction Technique Modification With Preservation of Blood Supply to the Monobloc Segment.
Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Summary: Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
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Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.
Summary: Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.