Norton Children’s Genetics Center, affiliated with the UofL School of Medicine, was established to help children who have special needs realize their full potential. Specialists provide outreach consultations across Kentucky along with health management, family support and resources for children with:

• Fragile X syndrome, Down syndrome, Marfan syndrome and neurofibromatosis
• Dysmorphic features and craniofacial abnormalities suggestive of a possible syndrome
• Growth differences with concern for a syndrome
• Genetic testing abnormalities
• Intellectual disabilities to determine etiology or risk factors for other family members

• Chromosome abnormalities
• Skeletal dysplasias
• Developmental syndromes (Williams syndrome, Rubinstein-Taybi syndrome, Kabuki syndrome, Smith-Lemli-Opitz syndrome, Russell-Silver syndrome)
• Connective tissue disorders, such as Ehlers-Danlos syndrome
• Inborn errors of metabolism, such as phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase (MCAD), very long-chain acyl-CoA dehydrogenase (VLCAD), organic acidemias and maple syrup urine disease (MSUD)
• Lysosomal storage disorders, including Fabry disease, Gaucher disease, mucopolysaccharidoses and Pompe disease

Diagnostic Services and Testing

At the first visit, a clinical geneticist will:

• Perform a physical examination, looking for features that may give clues to a genetic diagnosis
• Gather information about the child’s personal and family medical history
• Order tests, such as imaging or blood tests, that may be helpful in guiding genetic testing

Genetic Counseling

The genetic counselor assists families in understanding recommended tests and what to expect from each test. This includes explaining patterns of inheritance, recurrence risks, natural history of diseases and genetic testing options. The genetic counselor also will explain test results and what they mean, and may recommend further medical services.

Nutritional Services for Metabolic Disorders

We work with families to establish a unique nutritional therapy plan for children with metabolic disorders. Metabolic nutrition services can include:

• Evaluation of the child’s current nutritional status and needs
• Nutritional analyses, including history from the parent or patient
• Unique nutritional treatment plans based on lab results and targeted nutrients
• Diet and formula education and counseling for families

Prenatal Counseling for Expectant Parents

We work closely with Norton Children’s Maternal-Fetal Medicine to provide prenatal counseling for expectant parents regarding:

• Advanced age at pregnancy
• Abnormal maternal serum screening
• Family history of a genetic disorder
• Fetal abnormalities identified on ultrasound

Exposure to potentially harmful infections or compounds