Saethre-Chotzen syndrome

Causes

What gene change or mutation causes Saethre-Chotzen Syndrome?

Saethre-Chotzen syndrome is caused by changes or mutations in a gene called TWIST1. These changes can be small spelling mistakes in the gene, small parts of the gene missing or extra, or even the complete loss of the gene. To learn more about the gene that causes Saethre-Chotzen syndrome, visit: https://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome#genes

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What happens because of the TWIST1 gene change?

Does anything make Saethre-Chotzen Syndrome worse?

What happens because of the TWIST1 gene change?

Mutations in the TWIST1 gene cause a shortage in the TWIST1 protein, which is important for the development and growth of the cells that make up the skull, face, and limbs. If the developing fetus does not have enough of the TWIST1 protein, this causes the bones and muscles of the head, face, and limbs to develop incorrectly. This is what causes the premature fusion of the bones. To learn more about how mutations in TWIST1 causes Saethre-Chotzen syndrome, speak with your doctor or genetic counselor.

Does anything make Saethre-Chotzen Syndrome worse?

This disease is caused by a genetic change, which means it was there when the fetus was developing in the mother’s womb, when the baby was born, and will be present for the child’s whole life. The gene change will not ever go away, although the symptoms of Saethre-Chotzen syndrome may change over time. Other than the natural changes that go along with this disease, things like environmental factors or dietary choices will not make this disease any worse. To learn more, speak with your doctor.

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