Cardiovascular Genetics specializes in diagnosing and managing patients with heritable cardiovascular disease and genetic conditions with cardiac features, such as Marfan, Loeys Dietz, Turner and Williams syndromes. We also evaluate for and manage arterial disorders such as vascular Ehlers Danlos syndrome, bicuspid aortic valve with aortopathy and familial aortic aneurysm.
The Epigenetic Syndromes Clinic provides comprehensive, interdisciplinary care for our patients through collaborations across Cincinnati Children's. Examples of conditions we treat include Rubinstein-Taybi syndrome, Kabuki syndrome, Menke-Hennekam syndrome and KAT6A-related disorder.
The General Genetics Clinic provides services to children and adults who are at risk for or have already been diagnosed with a genetic condition. Services are available at a variety of locations, including the Main Campus, Liberty Township and Mason.
In addition, we provide evaluations for new and follow-up patients by telemedicine.
The Biochemical Genetics Section of the Human Genetics Division at Cincinnati Children's provides clinical, nutritional and laboratory care programs for children and adults with metabolic or biochemical diseases. The clinic provides care to newborns with abnormal newborn screening tests, children and adults with clinical symptoms suggesting a disorder of metabolism and families with a history of metabolic disease.
For more information about the Metabolic Diseases Clinic, contact the Human Genetics Division at 513-636-4760.
Referral Information for Physicians:
Routine referral: 513-636-5576
Urgent referral: Physician Priority Link, 513-636-7997
The Multiple Sclerosis and Neuroimmunology Center provides expert care for children, adolescents and young adults with all types of neuroinflammatory diseases, including multiple sclerosis, systemic lupus, and optic neuritis.
The Cincinnati Neurofibromatosis Center serves as a resource to patients and families affected by neurofibromatosis (NF) by providing comprehensive diagnosis, treatment, and research of this disease. The NF Center includes a pediatric NF Clinic, Adult NF Clinic, NF / Neurology Clinic, NF Orthopedics and a Neuro-Oncology Clinic. The Cincinnati NF Center was also one of the first 20 programs chosen by the Children’s Tumor Foundation (CTF) to be part of the national NF Clinic Network, and is one of nine centers chosen to be part of the NF Clinical Consortium.
If you or your child has a condition that has been difficult to diagnose, your provider may order a test called exome sequencing to look for the genetic cause. However, exome sequencing yields a diagnosis in fewer than half of cases. Patients who are undiagnosed after exome sequencing can be seen in the Post-Exome Clinic. We utilize all clinical and research tools at our disposal to continue to try to reach a diagnosis, and we are happy to apply our knowledge and experience to partner with families in their diagnostic journey. Using additional genomic technology to make a diagnosis can open the door to new therapies and management of your or your child's condition.
For additional information or to make a referral, email us at email@example.com.