Genetics is a medical specialty that focuses on health issues caused by changes in your DNA. Some of these conditions may be passed from parents but most often an individual can have the condition without having other affected family members. At Stanford Medicine Children’s Health, we provide comprehensive diagnostic evaluation, clinical management and genetic counseling for individuals with known or suspected genetic disorders. Because genetic conditions can affect children and adults our clinics service both populations and can help coordinate care with other medical specialties if needed.

Our team is committed to providing excellent patient care through comprehensive diagnostic evaluation, clinical management, and genetic counseling. We are dedicated to furthering genetic research to improve patient care and therapeutic options.

Genetic conditions can impact different aspects of health and present with a variety of symptoms. Our team of geneticists and genetic counselors have a diverse background in training and areas of expertise to meet this need. To provide more specific care, patients can be seen in the sub-specialty clinics listed below. 

The General Genetics clinic provides diagnosis and care to children and adults with a known or suspected genetic disease. Genetic disease is caused by a variation in an individual’s genes and can include developmental delay, structural birth defects, multiple system disorders, or unusual physical features. The General Genetics clinic focuses on individuals with developmental delays, intellectual disability, birth defects, and/or family history of genetic conditions.    

Medical Director: David Stevenson, MD

The Cleft and Craniofacial clinic focuses on the evaluation and treatment of indivduals with conditions affecting the face, head and neck, including cleft lip and palate and craniocynastosis. We offer evaluation for diagnosis of possible genetic conditions that can manifest with craniofacial differences, and offer specific testing, management, and genetic counseling. 

Medical Director: Jon Bernstein, MD, PhD

The Differences of Sexual Development (DSD) clinic is a multi-disciplinary clinic composed of experts in medical genetics, endocrinology, urology and child psychiatry and psychology. The DSD clinic serves to diagnose and care for infants, children and adults with conditions that affect genital development. There are many underlying causes of DSD; clinical care is often complex and many patients have a rare diagnosis causing the DSD. The Stanford DSD team routinely meets to discuss each patient’s care in order to provide high-quality, evidence-based care that integrates all aspects of your child’s care.

Medical Director: Christy Tise, MD, PhD and Heather Byers, MD

The Down Syndrome Clinic is dedicated to helping individuals with Down Syndrome reach their full potential and function as independently as possible in all aspects of school and family life. Our focus is on the prevention and early detection of developmental issues associated with Down Syndrome. We work with referring physicians to proivide coordination of care and provide community resources to families. We believe in the importance of educating parents to become strong advocates for their children. 

Medical Director: Melanie Manning, MD

Our Genetic Disorders of the Skin clinic specilaizes in the diagnosis and treatment of individuals with hereditary disorders that primarily affect the skin. Disorders include albinism, ectodermal dysplasias, ichthyoses, and premature aging syndromes. Diagnostic consultations are also available for individuals with a probable genetic disorder in which skin changes may be a clue to diagnosis.

Medical Director: Natalia Gomez-Ospina, MD, PhD

The Stanford Medical Genetics biochemical disease team cares for children and adults with inherited metabolic disease We treat and manage metabolic disroders from the mildest and most common, to the most severe and rarest. We participate in a robust solid organ transplant program and actively research novel therapies, including stem cell transplant for several conditions. 

Medical Director: Gregory Enns, MD

For patients experiencing primarily neurologic symptoms suspected to result from metabolic, or mitochondrial abnormalities, Stanford’s Neurometabolic Clinic is staffed by a biochemical geneticist, a neurologist, and a genetic counselor who focus on the diagnosis and management of genetic neurometabolic disease.

Medical Director: Greg Enns, MD

Our Perinatal Genetics center provides a full range of diagnostic, treatment, consultation, and counseling services to pregnant women. We are dedicated to providing the highest quality care, with state-of-the-art technology. We provide support, coordinated care with your primary care physicians, and open communication to meet your medical and emotional needs. 

Medical Director: Dena Matalon, MD

Our clinic focuses on individuals with RASopathies and the neurofibromatoses, including Noonan syndrome, and Neurofibromatosis types 1 and 2. We are experts in evaluation, diagnosis, and management of these conditions. Our goal is to help families easily navigate the healthcare of affected individuals with the various manifestations of disease. 

Medical Director: David Stevenson, MD

Our clinic focuses on individuals with vascular malformations including a wide variety of disorders such as hereditary hemorrhagic telangiectasia and familial cerebral cavernous malformations. We work closely with the Stanford Vascular Anomalies Care Team to provide optimum care to our patients and families. 

Medical Director: David Stevenson, MD