Jackson-Weiss Syndrome Health Article

Diagnosis

Characteristic facial features and unusual toes may be obvious to an untrained eye, but a thorough physical exam by a physician is necessary to check for less obvious differences. Bony differences may not be obvious, appearing only on x ray. Bony differences in the feet were found consistently, even in seemingly unaffected individuals, in the original Jackson-Weiss syndrome family. X ray is considered to be a very important element in diagnosing JWS. X rays are also important in determining what specific type of abnormal skull plate fusion is present.

DNA testing is available for Jackson-Weiss syndrome. This testing is performed on a blood sample in children and adults to confirm a diagnosis made on physical features. Prenatal genetic testing is also available. An unborn baby can be tested for JWS with DNA extracted from cells obtained via chorionic villus sampling or amniocentesis.

Treatment and management

There is no medication or cure for Jackson-Weiss syndrome. Treatment, if necessary, depends on an individual's symptoms. Surgery is always offered to correct the most severe physical complications, like cleft palate. Foot and facial abnormalities can also be treated with surgery if they are bothersome to an affected individual. Cosmetic surgery on the face can yield excellent results. In many cases facial differences are so mild that surgical intervention is not recommended. Counseling and support groups may be helpful to patients experiencing emotional difficulty due to physical differences.

Genetic counseling is offered to persons who have this inheritable disorder. Parents with this disease have a 50% chance of passing it to each of their children. Prenatal diagnosis for JWS is available. This prenatal genetic testing cannot, however, predict the severity or scope of an individual's symptoms. In the future, parents with genetic diseases like Jackson-Weiss syndrome may be able to opt for disease diagnosis from a cell of an embryo before the embryo is introduced to the mother's womb. This testing is called preimplantation genetic diagnosis and is already available in some centers in the United States.

Prognosis

The life span of individuals with JWS is normal. Intelligence is often normal, though borderline intelligence and mental retardation have been described in some patients with JWS.

PERIODICALS

Roscioli, T., et al. "Clinical Findings in a Patient with FGFR1 P252R Mutation and Comparison with the Literature." American Journal of Medical Genetics 93 (2000): 22-28.

Tartaglia, Marco, et al. "Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders." Human Genetics 101 (1997): 47-50.

ORGANIZATIONS

Children's Craniofacial Association. PO Box 280297, Dallas, TX 75243-4522. (972) 994-9902 or (800) 535-3643. contactcca@ccakids.com. <http://www.ccakids.com>.

FACES. The National Craniofacial Assocation. PO Box 11082, Chattanooga, TN 37401. (423) 266-1632 or (800) 332-2373. faces@faces-cranio.org. <http://www.faces-cranio.org/>.

WEBSITES

Online Mendelian Inheritance in Man. <http://www3.ncbi.nlm.nih.gov/Omim>.

Robin, Nathaniel, MD. "Craniosynostosis Syndromes (FGFR-Related)." [October 12, 1998]. Gene Clinics: Clinical Genetic Information Resource. University of Washington, Seattle. <http://www.geneclinics.org/profiles/craniosynostosis/index.html>.

Judy C. Hawkins, MS