The 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 abnormalities include birth defects, intellectual disability, short stature, genetic syndromes and metabolic disorders. Our physicians have gained an international reputation for their expertise in evaluating and treating neurofibromatosis (which causes tumors to form in the nervous system), phenylketonuria (PKU), which if untreated causes intellectual disability, and lysosomal storage disorders (which are caused by enzyme deficiencies in the cell), such as the mucopolysaccharidoses, Gaucher disease, Fabry disease, Pompe disease and many others. We care for approximately 2,500 infants, children and young adults each year.
We offer the following services:
Multispecialty physician consultations with the patient and family
A multidisciplinary team of experienced healthcare providers will care for your child. This team approach makes it easier for you to see every specialist your child needs under one roof and often in the same visit.
We participate in several multidisciplinary programs to help diagnose and treat children with genetic and congenital conditions.
We take specialized approaches to diagnosing and treating our patients' genetic and congenital disorders. Often times we bring in specialists from other areas of the hospital to help us best care for a child.
Consultations may include other pediatric specialists to give your child the most comprehensive care available. For instance, our multidisciplinary team includes eye physicians (ophthalmologists) for patients with neurofibromatosis, heart doctors (cardiologists) for those with Marfan syndrome and orthopaedic physicians for children with skeletal dysplasias.