Division of Medical Genetics

• Birth defects 
• Cardiomyopathies 
• Chromosomal disorders (eg. Down, Klinefelter, Turner syndromes) 
• Congenital heart disease 
• Connective tissue disorders (eg. Ehlers Danlos, Marfan) 
• Craniofacial disorders 
• Cystic fibrosis 
• Delay in growth or development 
• DiGeorge syndrome 
• Dysmorphology 
• Family history of a genetic disorder 
• Fragile X 
• Hearing loss 
• Hemoglobinopathies 
• Inborn errors of metabolism 
• Inherited arrhythmias and long QT syndrome 
• Inherited liver disorders 
• Inherited skin (dermatological) disorders 
• Mitochondrial disorders 
• Muscular dystrophy 
• Neurofibromatosis 
• Osteogenesis imperfecta 
• Seizures 
• Skeletal dysplasia 
• Spinal muscular atrophy 
• Tuberous sclerosis

The Clinical Genetics Program is a comprehensive and caring resource for patients of all ages with birth defects, chromosome abnormalities, and genetic conditions. Services are coordinated with a complete range of specialists from the UMDNJ-Robert Wood Johnson Medical School Medical Group. Specialized genetic laboratory testing is arranged as necessary.

The program provides recommendations for medical care with ongoing long-term follow-up, referral to appropriate community resources, evaluation of other family members at risk, and coordination with the primary physician for optimal patient management.

The program works 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 are available for infants and children with some inherited metabolic diseases. Genetic counseling is available for families to understand their risks and options for future pregnancies.

We offer the following Special Services for families in need of assistance:

• Prenatal and Pediatric diagnosis and management of inborn errors of metabolism
• Evaluation and counseling for couples considering pregnancy who have a personal or family history that puts them at risk for having a child with an inherited metabolic disorder
• Evaluation and counseling for couples who are pregnant and are at risk for having a child with an inherited metabolic disorder