Division of Medical Genetics

With three clinical geneticists, four genetic counselors, and one
physician assistant, our full service of coverage includes expertise in:

• chromosome and genomic anomalies
• congenital malformations
• dysmorphology
• familial conditions such as tumor predisposition syndromes and myelodysplasias
• genetic causes of developmental delay, intellectual disability,
  and behavior differences
• single gene disorders
• teratogen exposure

We participate in clinics coordinating subspecialty care
for the following conditions:

• Down syndrome
• heritable disorders of connective tissue
• orofacial clefting and other craniofacial malformations
• osteogenesis imperfecta
• RASopathies (Neurofibromatosis type 1, Noonan syndrome,
  Cardio-Facio-Cutaneous syndrome, Costello syndrome,
  Legius syndrome and related conditions)
• skeletal dysplasia
  

We collaborate with and see patients in the following services:

• Hematology/Oncology
• Orthopedics
  
• Perinatal Management
• Transition of Care
  

We collaborate with the Biomedical Research Department to perform clinical research. Additional clinical research projects focus on our areas of clinical expertise and include Down syndrome, skeletal dysplasia, Costello syndrome, and other RASopathies.

• Read about Nemours’ comprehensive research efforts

As the educational arm of Jefferson Medical College, we offer:

• Undergraduate Medical Education (UME) of Jefferson medical students
• Graduate Medical Education (GME) of pediatric residents

In collaboration with Arcadia University, we offer graduate education for:

• Genetic Counseling
• Physician Assistants

Educational resources to medical professionals include:

• contributions to GeneReviews
• peer reviews for professional journals
• associate editor services for the American Journal of Medical Genetics
• informal consulting services on a case-by-case basis to medical professionals worldwide