Rare Diseases Genetic Disorders Jackson-Weiss Syndrome By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial process Mary Kugler, RN Medically reviewed by Medically reviewed by Brian Levine, MD on November 30, 2019 linkedin Brian Levine, MD, MS, FACOG, is board-certified in obstetrics and gynecology, as well as in reproductive endocrinology and infertility. Learn about our Medical Review Board Brian Levine, MD Updated on January 27, 2020 Print Jackson-Weiss syndrome is a genetic disorder caused by mutations in the FGFR2 gene on chromosome 10. It causes distinctive birth defects of the head, face, and feet. It is not known how often Jackson-Weiss syndrome occurs, but some individuals are the first in their families to have the disorder, while others inherit the genetic mutation in an autosomal dominant manner. BSIP / UIG / Getty Images Symptoms At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together (fuse) too early. This is called "craniosynostosis." This causes: Misshapen skullWidely spaced eyesBulging foreheadUnusually flat, underdeveloped middle area of the face (midface hypoplasia) Another distinctive group of birth defects in Jackson-Weiss syndrome is on the feet: The big toes are short and wideThe big toes also bend away from the other toesThe bones of some toes may be fused together (called "syndactyly") or abnormally shaped Individuals with Jackson-Weiss syndrome usually have normal hands, normal intelligence, and a normal lifespan. Diagnosis Diagnosis of Jackson-Weiss syndrome is based on the birth defects present. There are other syndromes that include craniosynostoses, such as Crouzon syndrome or Apert syndrome, but the foot abnormalities help distinguish Jackson-Weiss syndrome. If there is doubt, a genetic test could be done to help confirm the diagnosis. Treatment Some of the birth defects present in Jackson-Weiss syndrome can be corrected or lessened by surgery. Treatment of craniosynostosis and facial abnormalities is usually treated by doctors and therapists who specialize in head and neck disorders (craniofacial specialists). These teams of specialists often work in a special craniofacial center or clinic. The National Craniofacial Association has contact information for craniofacial medical teams and also provides financial support for nonmedical expenses of individuals traveling to a center for treatment. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. "Jackson-Weiss Syndrome." Genetics Home Reference. 2 May 2008. U.S. National Library of Medicine. "Jackson-Weiss Syndrome." Index of Rare Diseases. National Organization for Rare Disorders. Van Buggenhout, G., & J.P. Fryns. "Jackson-Weiss Syndrome." July 2005. Orphanet Encyclopedia. Wulfsberg, Eric. "Jackson-Weiss Syndrome." CCDD Family Education. 26 Jan 2004. Johns Hopkins Medicine.