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The Division of Human Genetics at Cincinnati Children’s provides comprehensive diagnostic services and clinical management for patients 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.
The Adult Genetics Clinic provides services to people over the age of 18 who have, or are at risk of having, a genetic condition, such as adults with developmental disabilities and people diagnosed with genetic conditions as children. We work with primary healthcare providers, and provide management recommendations, counseling about the genetics of the condition and the risk to other family members; testing, when available; and information about assisted reproductive technology.
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 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, Eastgate and Outpatient Kentucky. Outreach clinics are partly supported by grants from the Ohio Department of Health, Bureau of Maternal and Child Health and are held in Adams, Brown, Clermont and Highland counties.
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.
Cincinnati Children’s provides comprehensive, multidisciplinary care for children and young adults with hemophilia. The Hemophilia Comprehensive Care 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 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 Children's Hospital Medical Center of Cincinnati 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 at Children's Hospital Medical Center of Cincinnati, please contact the Human Genetics Division at 513-636-4760.
Referral Information for Physicians:Routine Referral: 513-636-5576Urgent Referral: Physician Priority Link, 513-636-7997.
Reference Laboratory Information:Special Chemistry: 513-636-8626Connective Tissue Testing: 513-636-8430
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 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.
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