Pediatric Genetics Program

The Rutgers Health Pediatric Genetics program provides clinical evaluation for genetic disorders, as well as comprehensive genetic counseling and risk assessment for patients and families. We offer continuing care for patients and coordinate multidisciplinary care and patient access resources that address specific conditions.

Our team consists of board-certified genetic counselors, metabolic dieticians, an advance practice nurse, and two board-certified medical geneticists, who perform all evaluations.

Birth Defects and Hereditary Disorders Services

The Rutgers Health Pediatric Genetics program coordinates services with a complete range of specialists from Rutgers Health. We provide recommendations for medical care and continuous follow-up, referral to appropriate community resources, evaluation of other family members at risk, and coordination with primary physicians so that our patients receive appropriate and consistent multidisciplinary care.

The program also provides evaluation and genetic counseling for couples considering pregnancy or who are already pregnant, who have a personal or family history placing them at risk for having a child with an inherited metabolic disorder.

Inborn Errors of Metabolism

We work with the New Jersey Department of Health and Human Services to provide follow-up assessment and testing of newborns suspected to have an inborn error of metabolism. Evaluation and ongoing treatment is available for infants and children with some inherited metabolic diseases.

Patients also receive referrals to see us for the following conditions:

  • Adult-onset genetic disorders
  • Autism
  • Birth defects
  • Cardiomyopathy (heart disease that makes it harder for the heart to pump blood to the rest of the body)
  • Chromosomal disorders (e.g., Down, Klinefelter, and Turner syndromes)
  • Congenital heart disease
  • Connective tissue disorders (e.g., Ehlers-Danlos or Marfan syndromes)
  • Craniofacial disorders
  • Cystic fibrosis
  • Delay in growth or development
  • DiGeorge syndrome (caused by the deletion of a segment of chromosome 22)
  • Fragile X (a genetic condition causing developmental problems including learning disabilities and cognitive impairment)
  • Hearing loss
  • Inherited heart arrhythmias and long QT syndrome
  • Inherited skin (dermatological) disorders
  • Mitochondrial disorders (dysfunctional mitochondria, the organelles that generate energy for cells)
  • Muscular dystrophy
  • Neurofibromatosis (tumors in the nervous system)
  • Osteogenesis imperfect (brittle bone disease)
  • Seizures
  • Skeletal dysplasia (dwarfism)
  • Spinal muscular atrophy (genetic disease affecting part of the nervous system that controls voluntary muscle movement)
  • Tuberous sclerosis (a genetic disorder with growth of benign tumors in many parts of the body)

Physicians who serve our program are on the faculty of Rutgers Robert Wood Johnson Medical School, a part of Rutgers University, one of the top research institutions in America. Our doctors are active in research and in teaching about all aspects of pediatric medicine and pediatric genetics. Each brings leading-edge knowledge from the classroom to the exam room.

If you are the parent of a child who may have a genetic disorder, an adult who is facing adult onset of genetic conditions, or your family has a history of a genetic disorder and you are considering pregnancy, please make an appointment with the Rutgers Health Pediatric Genetics program today.