Human Genetics

The Cincinnati STAR Center for Lysosomal Diseases is one of only a few comprehensive lysosomal disease centers in the world.  Lysosomal diseases are inherited conditions that interrupt the body's ability to break down specific compounds, causing buildup of compounds within cells.  Examples of Lysosomal diseases managed by our team include Gaucher disease, Fabry disease and Pompe disease.

The Connective Tissue Clinic provides care and treatment to adults and children with connective tissue disorders, including osteogenesis imperfecta (or OI, a genetic brittle bone disorder), hypophosphatasia and Ehlers-Danlos syndrome (EDS). 

Ehlers-Danlos syndrome is a group of inherited disorders that weaken connective tissues that support skin, bones, blood vessels and other organs. Symptoms include loose joints; fragile, small blood vessels; abnormal scar formation and wound healing; and soft, velvety, stretchy skin that bruises easily.  There are several types of EDS that can range from mild to life-threatening. Treatment involves managing symptoms and includes learning how to protect joints and prevent injuries.

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 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 Eastgate.

The Genomic Evaluation Program facilitates genetic evaluation and genetic counseling of patients for whom whole exome sequencing (ExomeSeq) is being considered.  It is recommended that patients and families have thorough genetic counseling before and after ExomeSeq to aid in both the consenting process and to address the results of this test.  The referring provider will be invited to participate in the genomic evaluation of the patient as well. 

• To refer a patient to the Genomic Evaluation Clinic, use the attached fax referral form.
• For more information, call 513-636-4760.  

The Hemangioma and Vascular Malformation Program at Cincinnati Children's Hospital Medical Center is one of only three facilities in the United States that is considered a national referral center for children and young adults with complex hemangiomas, other rare vascular tumors and vascular malformations. Our multidisciplinary team specializes in establishing an accurate diagnosis, which allows the team to develop the most effective treatment plan possible.

Cincinnati Children’s provides comprehensive, multidisciplinary care for children and young adults with hemophilia. The Hemophilia Treatment Center has extensive experience in caring for patients with mild, moderate and severe forms of the disease, and focuses on treating the whole person, not just the hemophilia.

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

Reference Laboratory Information:

Special chemistry: 513-636-8626
Connective tissue testing: 513-636-8430

The Mitochondrial Disorders Program offers expert medical care, cutting-edge genetic testing and extensive research for children with suspected mitochondrial disorders. Program director Taosheng Huang, MD, PhD, is recognized internationally for his contribution to diagnostics and research in mitochondrial disorders.

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 or Liberty campuses.

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 diagnostic work-up and management for these disorders.

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.