Genetics, Birth Defects & Metabolism

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:


Our genetics team includes medical geneticists (physicians who specialize in medical conditions with a genetic basis). The team also includes:

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.

The head of the division, Joel Charrow, MD, is a medical geneticist with more than 30 years of experience in treating genetic diseases. He also is a Professor of Pediatrics at Northwestern University Feinberg School of Medicine.


We treat the whole family along with the patient, offering a wide range of support services and resources for the entire family. For teens and their families, Lurie Children’s offers programs that help transition from pediatric to adult care.

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. Outpatient consultations are available at the main hospital as well as in Westchester and Northbrook.

Our specialized programs include:


The Division of Genetics, Birth Defects and Metabolism is deeply committed to research​, including studies in patients (clinical trials). Examples of ongoing studies include:

  • Treatment of more severe tumors (optic pathway tumors and plexiform neurofibromas) in children with neurofibromatosis
  • Natural history (the progression without treatment) of plexiform neurofibromas in children and adults with neurofibromatosis, which will let us know whether new treatments are changing the disease progression
  • Natural history of a large number of metabolic disorders, including the lysosomal storage disorders, and exploring the relationship between genotype and phenotype (our genetic composition and our individual traits)
  • Enzyme replacement therapy for children and adults with lysosomal storage diseases, such as Gaucher, Pompe and Fabry diseases, the mucopolysaccharidoses, and lysosomal acid lipase deficiency
  • Long-term results of treatment for phenylketonuria (PKU)
  • Long-term follow-up of children and adults with Marfan syndrome


Our pediatric specialists treat children for many genetic conditions. They include:


Private contributions help support important patient and family services such as genetic counseling.

Your support is vital in helping us continue to make a difference in the lives of patients and families. Lurie Children’s relies on philanthropic funding to enhance its programs, services and research for children. To learn more, please e-mail Lurie Children’s Foundation at, call 312.227.7500 or make a gift today.

Related Stories

​Transitioning to Home Care

Almost Home Kids (AHK), now part of the Lurie Children’s family, cares for children with complicated health needs by providing family training, respite care and short-term transitional care in a home-like setting. AHK is staffed with medical professionals and volunteers to make sure every child and their families are prepared for the return home. The Division of Genetics, Birth Defects and Metabolism works closely with Almost Home Kids to make the care transition process as easy as possible.

Learn more about AHK.