An exam during pregnancy may show an unusually large uterus and extra amniotic fluid. There may be an unusually small placenta when the baby is born.
A physical exam of the infant may show unusual fingerprint patterns. X-rays may show a short breast bone. Chromosome studies will show trisomy 18, partial trisomy, or translocation.
Other signs include:
Hole, split, or cleft in the iris of the eye (coloboma)
Separation between the left and right side of the abdominal muscle (diastasis recti)
Half of infants with this condition do not survive beyond the first week of life. Some children have survived to the teenage years, but with serious medical and developmental problems.
Complications
Complications depend on the specific defects and symptoms.
Calling your health care provider
Genetic counseling can help families understand the condition, the risks of inheriting it, and how to care for the patient.
Prevention
Tests can be done during pregnancy to find out if the child has this syndrome.
Genetic testing is recommended for parents who have a child with this syndrome and who want to have more children.
Review Date:
7/8/2012
Reviewed By:
Chad Haldeman-Englert, MD,FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
