Saethre-Chotzen syndrome


Saethre-Chotzen syndrome is an inherited disorder that affects one in every 50,000 individuals. The syndrome is characterized by early and uneven fusion of the bones that make the skull (cranium). This affects the shape of the head and face, which may cause the two sides to appear unequal. The eyelids are droopy; the eyes widely spaced. The disorder is also associated with minor birth defects of the hands and feet. In addition, some individuals have mild mental retardation. Some individuals with Saethre-Chotzen syndrome may require some medical or surgical intervention.


The cranium is made up of three main sections. The three sections are the face, the base of the cranium, and the top and sides of the head. Most of the cranium assumes its permanent shape before birth. However, the bones that make up the top and side of the head are not fixed in place, and the seams between the bones (cranial sutures) remain open. This allows the top of the head to adjust in shape, as the unborn baby passes through the narrow birth canal during labor. After birth, the cranial sutures will close, most often within the first few years of life. The shape of the cranium is then complete.


For many years, there was widespread discussion among physicians (geneticists) over whether a given patient would have either Saethre-Chotzen or Crouzon syndrome. There may even be confusion with other craniosynostosis syndromes or with isolated craniosynostosis. However, the availability of direct gene testing now allows for a more definitive diagnosis for these patients. Simply using a blood sample, a direct gene test for mutations in the TWIST gene can be done. If an individual also has mental retardation or other significant birth defects, it is suggested that they be screened more fully for deletions of the TWIST gene.


Most individuals with Saethre-Chotzen syndrome appear to have a normal life span.


Very often, the physical characteristics of Saethre-Chotzen are so mild that no surgical treatment is necessary. The facial appearance tends to improve as the child grows. However, sometimes surgery is needed to correct the early fusion of the cranial bones. A specialized craniofacial medical team, experienced with these types of patients, should do this surgery. Surgery may also be done to release the webbing of the fingers and toes. Some of the more severely affected individuals with Saethre-Chotzen may experience problems with their vision. There may be less space in the eye socket due to the bone abnormalities of the face. This can lead to damage of the nerves of the eye and may require corrective surgery. The tear ducts of the eye can also be missing or abnormal. Re-constructive surgery is sometimes performed to correct the drooping of the eyelids or narrowing of the nasal passage.