Genetic Conditions We Treat
Our medical genetics team is comprised of medical geneticists (physicians), genetic counselors, a clinical genetics nurse and a registered dietician. Together, we provide education and assist families with the management of genetic and congenital disorders.
The conditions we treat include:
- Abnormalities identified by newborn screening
- Birth defects
- Chromosome abnormalities
- Developmental delay/learning disabilities
- Familial conditions
- Fetal alcohol syndrome
- Genetic syndromes
- Intellectual disability
- Metabolic conditions
- Multisystem malformations
- Neurodegenerative conditions
- Recognized genetic syndromes
Genetic Services for Children
Cancer Genetic Counseling
Genetic mutations may increase a child’s risk of developing cancer. Knowing what your family’s risks are can help you make life-saving medical decisions. Our doctors help you navigate the process by providing the full spectrum of cancer specific genetic counseling for your family. This includes risk assessments, screenings and evaluations.
Prenatal Genetic Counseling
Expectant mothers may see a medical geneticist due to advanced maternal age, abnormal maternal serum screening, fetal abnormalities, teratogen exposure or a family history of a genetic disorder.
Inpatient & Outpatient Consultations
These are usually recommended for birth defects, known or suspected genetic syndromes, developmental delays, or autism of unknown cause and family history of a genetic condition. Our outpatient services also include multispecialty clinics in neurofibromatosis and cleft lip and palate.
Initial Evaluation
If your child is referred to us we will work with you to determine the best tests for you or your child. Additional testing of other family members may also be recommended.
- When possible, we encourage both parents to attend the genetics evaluation, which may last an hour.
- It may be helpful to bring photographs of you, your child, and family members at different ages. Medical records from other evaluations are also useful.
- After an initial evaluation, we may recommend additional testing. From there, we may need to refer you to other specialists such as a cardiologist, neurologist, or early interventionist.
If additional testing is recommended with specialists outside of our department, our team will assist in arranging these, working with your child’s pediatrician every step of the way.
A simple blood test or cheek swab could make all the difference in influencing your future health care decisions. We are here to help you understand your risks and manage any conditions your family may face. For more information or to schedule an appointment, please call 314-577-5639.