What are the main symptoms of Saethre-Chotzen Syndrome?
The most significant symptoms of Saethre-Chotzen syndrome are due to the early connecting of the bones of the skull. Depending on how these bones connect, the skull may look pointed in front (acrocephaly), flattened in front (brachycephaly), or asymmetrical (uneven) from one side compared to the other. As the brain continues to develop, the early closing of the skull bones may cause pressure on the brain as it grows.
Other common and potentially serious symptoms include mild hearing loss and dental defects, such as missing or malformed teeth. Other cosmetic or facial differences associated with Saethre-Chotzen syndrome include low-set ears and a high arched palate. Hand and foot differences, such as webbed skin between fingers or toes (syndactyly) or abnormally short fingers and toes (brachydactyly) may also be present.
Besides physical features, children with Saethre-Chotzen syndrome may have growth and other developmental delays. To learn more about the signs and symptoms of Saethre-Chotzen syndrome, visit:Saethre-Chotzen symptoms
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Are there different forms of Saethre-Chotzen Syndrome?
Classic Saethre-Chotzen syndrome usually has skull bones that fuse earlier than they’re supposed to, eyes that don’t align correctly, droopy eyes, and fingers or toes that are joined together with extra or webbed skin. Milder and more severe forms of this disease have also been described, but are less common.
The milder form usually has eyelids that are too small or droopy eyes, and may or may not have cranial bones that fuse together too early. The more severe form of Saethre-Chotzen syndrome has symptoms that include severe skull bone fusion and differences in the bones of the spine. Both the milder and more severe forms of Saethre-Chotzen syndrome may be confused with other diseases that have similar features, and can only be diagnosed for certain with genetic testing for a TWIST1 gene change. To learn more about how to diagnose Saethre-Chotzen syndrome, speak with your doctor.
What health problems should I look for with Saethre-Chotzen Syndrome?
Health problems associated with Saethre-Chotzen syndrome are usually due to early closure of the skull bones. Depending on when and how these bones close around the brain, they may cause too much pressure on the brain as it develops. If this pressure occurs, it often needs to be fixed with a surgery in the first year of life.
Other health problems that may arise with Saethre-Chotzen syndrome include hearing and vision problems. A child with Saethre-Chotzen syndrome should regularly go to doctors that specialize in care of the eyes, ears, and bones, to decide if further treatments of the symptoms of this disease are needed. If you are concerned about any of these health concerns, speak with your doctor.
Are there any other diseases that look like Saethre-Chotzen Syndrome?
The milder form of Saethre-Chotzen syndrome may easily be confused with BPES or Robinow-Sorauf syndrome. BPES is caused by a change in a different gene, and symptoms include eyelids that are too small and droopy eyelids, as well as an extra fold of skin in the inner corners of the eyes. Robinow-Sorauf syndrome is caused by a different type of change in the TWIST1 gene, the same gene that can cause Saethre-Chotzen syndrome. Symptoms of Robinow-Sorauf syndrome include a flat-looking face, eyes that are spread apart, and wide big toes.
The more severe form of Saethre-Chotzen syndrome looks exactly the same as Baller-Gerold syndrome, which is caused by a gene change in a different gene. Symptoms of Baller-Gerold syndrome include skull bones that fuse together very early, and differences in the bones that make up the spine.
If a child’s symptoms look like they could be caused by other diseases that are similar to Saethre-Chotzen, genetic testing may be required to determine the gene that is changed and the type of change that is there.
Can a person have Saethre-Chotzen Syndrome and not show any symptoms?
A person may have a genetic change that causes Saethre-Chotzen syndrome, but not have any symptoms. This is called reduced penetrance. This person is still at risk of passing on the condition to a child, who has classic features of the syndrome, including fingers that are joined by extra skin or skull bones that fuse early and put pressure on the brain. To learn more about this, speak with a genetic counselor.
Can two people in the same family both have Saethre-Chotzen Syndrome and have different symptoms?
Two family members who both have Saethre-Chotzen syndrome may have different symptoms of the disease. This is called variable expressivity. For example, a father might have been born with droopy eyes and a couple of fingers that were joined together by webbed skin. His daughter may be born with some of the same symptoms, but also have early fusion of the bones in her skull, which is another symptom of this disease. To learn more about this, speak with your genetic counselor.
- Dollfus H, Biswas P, Kumaramanickavel G, et al. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am J Med Genet. 2002; 109(3): 218-225.