Defects in the eye (coloboma that extends into the lower lid)
Decreased eyelashes on the lower eyelid
Genetic tests can help identify gene changes linked to this condition.
Hearing loss is treated to ensure better performance in school.
A good plastic surgeon is very important, because children with this condition sometimes need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.
Genetic counseling can help families understand the condition and how to care for the patient.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Chad Haldeman-Englert, MD, 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., Inc.