Our Division of Genetics, Birth Defects and Metabolism provides a full range of services for the diagnosis, counseling and treatment of patients with genetic and congenital disorders.

These conditions include phenylketonuria (PKU), neurofibromatosis, Gaucher disease and other Jewish genetic disorders, skeletal dysplasias, neurogenetic disorders, ophthalmogenetic disorders, and Marfan syndrome.

Outpatient consultations

Outpatient consultations are available at the hospital's main campus as well as suburban outpatient centers in Westchester and Glenview. Consultations include general evaluations of children with birth defects, mental retardation, short stature or suspected syndromes or metabolic disorders and genetic counseling. Specific consultations that include other pediatric subspecialists are also available.

These multidisciplinary consultations are targeted for disorders that affect children and adults, such as those that involve the nervous system (neurogenetic), the eyes (ophthalmogenetic); neurofibromatosis; PKU; Gaucher disease; cardiomyopathy and Marfan syndrome.

Diagnostic laboratory services

Diagnostic laboratory services are available through all of our locations and include chromosome analyses, FISH studies, molecular testing for Fragile X, amino and organic acid analyses and a variety of enzyme assays.

Nutritional services

Nutritional services for PKU and other metabolic disorders are available from our specially trained metabolic nutritionist. Appointments with our physicians, genetic counselors and nutritionists are by appointment only.

Appointments

Call 773.880.4462 from 8 a.m. and 5 p.m. Monday through Friday.