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
Conditions that can be Identified
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