The 20 Best Smith-Lemli-Opitz Syndrome Doctors Near Me in San Jose, CA
Find the Top Smith-Lemli-Opitz Syndrome Experts and Specialists
Vandever Medical Offices
Simona Bianconi is a Pediatrics specialist and a Medical Genetics provider practicing medicine in San Diego, California. Dr. Bianconi is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Niemann-Pick Disease, and Reticulohistiocytoma. Dr. Bianconi is currently accepting new patients.
Santa Rosa Medical Center
Elizabeth Au is a primary care provider, practicing in Internal Medicine in Santa Rosa, California. Dr. Au is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome and Ocular Hypertension (OHT). Dr. Au is currently accepting new patients.
UC Irvine Medical Center
Dr. Virginia E. Kimonis is a board-certified UCI Health clinician-scientist who specializes in the diagnosis and treatment of children and adults with neuromuscular, neurodegenerative, dysmorphia and other complex disorders.Her clinical interests include inclusion body myopathy, Paget disease, Pompe disease, frontotemporal dementia, Prader Willi syndrome, morbid obesity and craniosynostosis.Kimonis earned her medical degree at the University of Southampton Medical School in Southampton, England. She completed a residency in pediatrics at Massachusetts General Hospital in Boston, followed by a fellowship in clinical and biochemical genetics at the National Institutes of Health (NIH) and Children's National Hospital in Washington, D.C.The author or co-author of more than 175 peer-reviewed publications in prestigious journals, Kimonis has focused her research primarily on inherited muscle disorders, lysosomal storage diseases, Prader Willi and several other rare disorders. She developed the Lysosomal Disease Program, established a registry study among a large cohort of patients with Pompe disease, and conducted a study of resistance training for axial and respiratory muscles in Pompe disease as an adjunct to enzyme replacement treatment.She also discovered multisystem proteinopathy, a new disease type associated with mutations in the VCP gene that overlaps with Pompe disease. She has received research funding from numerous agencies, including NIH, the Muscular Dystrophy Association, the Paget Foundation and other rare disease foundations.Kimonis also is a lead investigator with the newly establishedNational Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, a joint program of UCI Health and Children's Hospital of Orange County (CHOC). Dr. Kimonis is rated as an Experienced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.
James Goldberg is a Medical Genetics specialist and a Neonatologist practicing medicine in San Francisco, California. Dr. Goldberg is rated as an Experienced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Fragile X Syndrome, Chromosome 13q Duplication, and Trisomy 13.
Robin Clark is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Loma Linda, California. Dr. Clark is rated as an Experienced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.
Last Updated: 06/30/2026