Pediatric Genetic Disorders Care

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Care at 4 locations

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Appointments 1.800.543.7362 

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
  • Genetic screening and diagnostic testing
  • Genetic counseling for people who may be at risk of an inherited disease or abnormal pregnancy
  • Full-service, state-of-the-art laboratory testing
  • Nutritional services for metabolic disorders such as phenylketonuria​ (PKU)

Approach

We treat the whole family along with the patient, offering a wide range of support services and  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. 

Our Programs

We participate in several multidisciplinary programs to help diagnose and treat children with genetic and congenital conditions.

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Conditions We Treat

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. 

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Appointments

If you’d like to request an appointment with one of our specialists, call 1.800.543.7362 (1.800.KIDS DOC®) or visit our Appointments page for more information. 

Tests & Treatments

The Division of Genetics, Birth Defects and Metabolism offers comprehensive genetic screening and laboratory services.

Specialists

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

  • Advanced practice nurses
  • Genetic counselors
  • Nutritionists
  • Social workers

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.

Research

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