Human Genetics
Treatments and Services

Diagnostic Services and Clinical Care

The Division of Human Genetics at Cincinnati Children’s provides comprehensive diagnostic services and clinical management for patients of all ages and families affected with a variety of genetic conditions. Geneticists, genetic counselors, advanced practice registered nurses and registered nurses all participate in clinical care. Clinical research trials are available in some areas.

Specialty Clinics and Programs

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 Cincinnati Children's Fetal Care Center provides excellent, comprehensive maternal fetal health services for high-risk pregnancy patients in a single, family-oriented center. The center offers a complete range of services, ranging from prenatal diagnosis through fetal interventions and including open fetal surgery.
The Craniofacial Center at Cincinnati Children's Hospital Medical Center follows children born with a variety of craniofacial disorders from birth through adolescence. Our skilled medical and dental team uses a multidisciplinary approach to diagnose, treat and manage children with problems affecting the skull, face, jaws, and mouth, including cleft lip and/or palate, Crouzon disease or hemifacial microsomia.
The Differences of Sex Development Center works with patients and families to provide an integrated, comprehensive plan for medical and / or surgical management of differences of sex development.

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 Hereditary Cancer Program consists of a team of genetic counselors and physicians with experience in cancer risk assessment. Services provided include complete evaluation of family history, risk assessment for familial and hereditary cancers and identification and discussion of genetic testing options. The goal of the Hereditary Cancer Program is to provide an evaluation of cancer risk and to help individuals and their physicians understand and utilize genetic information to make personalized and appropriate screening and medical management decisions.
The Huntington Disease (HD) Clinic consists of a multidisciplinary team which provides specialized services to both individuals with symptoms of Huntington disease as well as individuals at risk of Huntington disease. The HD clinic team provides individuals with a personalized risk assessment based on a thorough review of personal and family medical histories as well as a neurological examination. The team also offers counseling and support for individuals considering the option of genetic testing for Huntington disease.

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.

Patients may be seen at the Burnet, Liberty or Mason campuses. We see adults in collaboration with UC Internal Medicine.

The Neurometabolic Clinic is a multispecialty clinic for children with suspected metabolic diseases of the nervous system, including mitochondrial disorders, disorders of creatine metabolism, glucose transporter deficiency, congenital disorders of glycosylation, glutaric aciduria type 1 and type 2 (MADD), leukodystrophies and neurotransmitter disorders. We offer expert, collaborative neurology and genetic diagnostic work-up and management for these disorders.

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

The Human Genetics Division at Cincinnati Children's Hospital Medical Center offers specialized counseling for pregnant women and their partners who are concerned about genetic or environmental risks.  Services include discussion of options for testing, treatment and management. We also offer preconception counseling for families with a personal or family history of a genetic condition who are interested in future pregnancies.
The RASopathy Program at Cincinnati Children’s provides expert clinical care to patients affected by Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, and related disorders. Patients seen in our clinic will have access to numerous specialties including genetics, neurology, cardiology and endocrinology. These specialists work together to provide a holistic approach to patient care, including the emotional needs of patients and families.
The Skeletal Dysplasia Center at Cincinnati Children’s Hospital Medical Center is a multidisciplinary clinic specializing in the diagnosis and management of children and adults with skeletal dysplasias. Skeletal (bone) dysplasias are a group of more than 300 disorders in which the cartilage or bone does not grow as expected, resulting in short stature, soft or brittle bones, other physical features, and/or impaired bone and joint function. The team is dedicated to improving the quality of life for individuals with skeletal dysplasias.
The Tuberous Sclerosis Clinic at Cincinnati Children's is one of the largest clinics in the world. Our clinic combines the expertise of specialists in several areas to address the medical, psychological and social issues that patients with tuberous sclerosis might face. The purpose of the Tuberous Sclerosis Clinic is not to replace care from the child's pediatrician or family physician, but to assist the primary care doctor in dealing with those aspects of tuberous sclerosis that affect the child's health or development.
The 22Q-Velocardiofacial Syndrome Center includes specialists from Cardiology, Developmental and Behavioral Pediatrics, Genetics, Immunology, Otolaryngology, Plastic Surgery, Psychiatry, Psychology, and Speech Pathology. Services provided include medical and case management, patient and family support, and education and research about 22q11.2 deletion syndrome.
The VPI (Velopharyngeal Insufficiency / Incompetence) Clinic at Cincinnati Children's consists of healthcare professionals who specialize in the evaluation and treatment of patients with hypernasality and other resonance disorders.