When children are born with genetic mutations that result in differences in body structure, brain development, or body chemistry it can lead to problems with health, development, school performance, and/or social interaction. Our pediatric geneticist is trained to identify these disorders. A pediatric geneticist can also help families understand whether some conditions are hereditary and offer testing to family members who may be at risk for having children with similar problems.

Margie Jaworski, MD
Pediatric Geneticist
Conditions that can be Identified
  • Intellectual disability/autism

  • Birth defects, structural anomalies such as cleft lip/palate, limb abnormalities, cardiac malformations, skeletal dysplasia

  • Orthopedic problems including scoliosis, vertebral

  • Neurologic disorders such as epilepsy, hypotonia, muscle weakness, dystonia, ataxia, degenerative brain disorders

  • Hearing and vision abnormalities

  • Endocrine:  short stature, disorders of sex development, hypo/hyperthyroidism

  • Cardiac/connective tissue: Marfan syndrome, Ehlers-Danlos, arrhythmias, aortopathies, cardiomyopathies

  • Renal/Adrenal:  disorders of kidney function (tubulopathies), renal cysts, dysplastic kidneys. CAH, disorders of cortisol, hormones

  • Cancer syndromes:  neurofibromatosis, Lynch syndrome, Cowden, Li-Fraumeni, Von-Hippel-Lindau

  • Others:  lysosomal storage diseases, metabolic disorders, Huntington disease

To make an appointment with any of our subspecialists,

please contact your primary care physician.


For more information, you may reach the Nunnelee Clinic at 910.667.6888

REFERRAL LINE: 910-662-8941