Saethre Chotzen Syndrome
Saethre-Chotzen syndrome (SCS) is a rare disorder that affects approximately one child in every 25,000 to 50,000 born. A type of craniosynostosis, this condition can cause deformity of the skull, face, hands, and feet. SCS is part of a group of syndromes known as acrocephalosyndactyly and is designated as a type 3. Typically inherited from a parent, SCS can also happen spontaneously with no family history. Dr. Eric Payne, our experienced craniofacial plastic surgeon, can diagnose and treat SCS utilizing his extensively trained multidisciplinary team and the latest technology available. Our practice is dedicated to providing top-quality care as well as a compassionate and supportive environment for you and your family.
We can help you better understand Saethre-Chotzen syndrome and the treatment options available to you. Contact our office today for more information or to schedule a consultation.
What is Saethre-Chotzen syndrome?
A congenital disorder, Saethre-Chotzen syndrome occurs when the TWIST1 gene mutates. This gene is located on chromosome 7, and it regulates the musculoskeletal development of the head, face, hands, and feet. As a result, one or more joints in the skull may fuse prematurely (craniosynostosis), leading to cranial and facial deformities such as a cone-shaped head, flat face, wide-set eyes, droopy eyelids, and other irregular or asymmetrical features. Additionally, the fingers and toes may be shorter than normal and/or webbed, a condition called syndactyly. In most cases, SCS will be inherited from a parent. This birth defect is an autosomal dominant trait, meaning that an individual with SCS has a 50 percent chance of transferring the gene irregularity onto their child. Random mutation of the TWIST1 gene can also occur, in which case a child may be born with SCS even when there is no prior medical history of the disorder in the family.
Saethre-Chotzen syndrome can have mild, moderate, or severe characteristics. While not every individual with this condition will require treatment, some patients will need significant reconstructive care. Dr. Payne can develop a precise picture of your child’s specific needs using a comprehensive range of advanced diagnostic tools. He, with the assistance of his medical team, will create a customized treatment plan tailored to your child’s well-being in the short and long term.
How does Saethre-Chotzen syndrome occur?
In the majority of cases, SCS will develop as a result of genetic inheritance. If a parent carries the mutated gene associated with SCS, he or she can pass this defect onto their child even if the parent has no obvious signs of the disorder. Additionally, SCS can occur if there is a spontaneous mutation of the TWIST1 gene during the normal fetal development process, although the cause is unknown. A parent cannot provoke the development of SCS as a result of something they did or did not do during pregnancy. Aside from potentially passing on the syndrome through their genes, a parent is not responsible for bringing about this condition.
Can Saethre-Chotzen syndrome be passed on through the family?
It’s important for individuals with Saethre-Chotzen syndrome and parents of children with SCS to understand that this condition is heritable. Whether SCS occurred as a result of spontaneous genetic mutation or as a result of passing the defect from parent to child, an individual with the disorder has a 50 percent chance of transferring the irregular gene to their children. If you have SCS and are considering expanding your family, you may wish to speak with a geneticist about how this disorder can affect your plans.
What are the signs of Saethre-Chotzen syndrome?
The most recognizable sign of Saethre-Chotzen syndrome is craniosynostosis, which is a condition where the bony joints (sutures) of the skull close up prematurely. In SCS, one or more cranial sutures may be affected, most commonly the metopic, coronal, and lambdoid sutures. Furthermore, the sutures may fuse unevenly. As a result, individuals can have very different manifestations of this disorder, and even members of the same family diagnosed with this condition may present with unique features. In addition to craniosynostosis, SCS can impact the function and appearance of the hands and feet, causing the fingers and toes to be webbed or conjoined or to be shorter than normal. While mild to moderate cases of SCS typically have no influence on intelligence, severe instances may result in mental and learning disabilities. There is a wide range of signs associated with SCS, and your child’s experience will be singular.
Common signs of Saethre-Chotzen syndrome include:
- Tall, cone-shaped head
- Flat forehead
- Low hairline
- Asymmetrical face
- Droopy eyelids
- Wide-spaced and/or bulging eyes (orbital hypertelorism)
- Low-set ears
- Flat or recessed cheeks
- Crooked, flat, or “beaked” nose; possible deviated septum
- Cleft palate
- Syndactyly of the fingers and/or toes
- Shortened fingers or toes (brachydactyly)
- Shortened stature
- Mental disabilities in severe cases
Some instances of Saethre-Chotzen syndrome are mild enough that signs go unnoticed by the parents. For more moderate disorders, cranial and facial reconstruction procedures can help to address many of the concerns and even allow your child to lead a normal life. Some children may experience breathing or feeding problems, and these issues should be managed promptly. Dr. Payne will develop a fully customized treatment plan that takes into consideration your child’s unique needs and can achieve the best possible outcome.
What are the treatment options?
Treatment for Saethre-Chotzen syndrome will depend on the unique concerns of the child, who may experience different signs and symptoms depending on the severity of the condition. Dr. Payne will complete a number of tests using state-of-the-art 3D digital technology to develop a thorough understanding of your child’s case. If there are breathing or feeding problems, immediate surgery may be necessary to address these issues. In most cases, reconstructive procedures will typically begin when the patient is between six months and one year of age. We understand this can be a difficult time, and Dr. Payne and our experienced medical team strive to provide ongoing support to families and exceptional care throughout the process. The team of consultants and surgeons involved to treat SCS includes a geneticist, ENT surgeon, pediatric neurosurgeon, ophthalmologist, speech pathologist, orthodontist, and oral surgeon.
Cranial vault remodeling typically will be the first procedure, and this operation is commonly performed when the child is about nine months old, depending on the characteristics and whether there are signs of intercranial pressure. Cranial sutures that have fused or are in the process of fusing will be opened up to allow for more normal development of the brain, skull, and face. One or several surgeries may be necessary to optimize the outcome. Dr. Payne will monitor the child’s growth over time to help ensure treatment is progressing as intended and the patient is receiving the best possible care.
If there is webbing of the fingers or the toes, this can be released and repaired typically around the age of 12-18 months old. Skin grafts will be required for this procedure, which can usually be completed in two operations. If all the fingers and toes are fused, it is safer to stage the release of every other digit for syndactyly reconstruction.
Additional surgeries may be warranted to correct facial deformities, including temporizing nasal reconstruction. This technique is designed to help build the foundation for a functional, proportional nose and is often performed between five and seven years of age. A formal rhinoplasty is also recommended when the child is about 16-18 years old. Other potential reconstructive procedures include jaw advancement surgery, cleft palate surgery, techniques to rebuild flattened or sunken cheeks, and expansion of the orbital rim (eye socket) to reduce pressure on the eyes.
What is the recovery process like?
Recovery for Saethre-Chotzen syndrome will be similar to other conditions involving craniosynostosis. Following cranial vault remodeling, the child will remain in the PICU (Pediatric Intensive Care Unit) for about one to two days. Once stable, he or she will be moved to a standard hospital room where they will remain for a few more days. If jaw advancement surgery is performed, your child will be given intravenous fluids along with a soft-food diet until normal eating can be resumed. Dr. Payne and his experienced medical team will closely attend to the comfort and care of your child during this time. They will help you understand how to help your child recover and will discuss any instructions for bandages. Corrective helmets and headbands typically will not be used. During the healing process and beyond, your child’s progress will be observed to ensure the best possible result.
If you would like to learn more about Saethre-Chotzen syndrome, or if you would like to schedule a consultation with Dr. Payne, please contact our office today.