Miller SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Miller Syndrome
Miller syndrome is a rare condition that mainly affects the development of the face, arms, and legs. The severity of this disorder can vary among affected individuals.
Variants (also called mutations) in the DHODH gene cause Miller syndrome. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA and its chemical cousin RNA. Specifically, dihydroorotate dehydrogenase converts a molecule called dihydroorotate to orotate. In subsequent steps, other enzymes modify orotate to produce pyrimidines.
Miller syndrome is a rare disorder, although its exact prevalence is unknown. At least 30 cases have been reported in the medical literature.
This condition is believed to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Lumc
Gijs Santen practices practicing medicine in Leiden, Netherlands. Santen is rated as an Elite expert by MediFind in the treatment of Miller Syndrome. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses Micrognathia, Miller Syndrome, Coffin-Siris Syndrome, and KBG Syndrome.
Medical Genetics In Lawrenceville
Suneeta Madan-Khetarpal, MD, is a clinical geneticist and is certified in clinical genetics, clinical cytogenetics, clinical molecular genetics, clinical medical biochemical genetics, and pediatrics by the American Board of Medical Genetics and Genomics and the American Board of Pediatrics respectively. She is also associate professor of pediatrics, ophthalmology, and human genetics at the Graduate School of Public Health at the University of Pittsburgh School of Medicine. Dr. Madan is rated as an Advanced provider by MediFind in the treatment of Miller Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses 1p36 Deletion Syndrome, Micrognathia, Mosaicism, and Miller Syndrome. Dr. Madan is board certified in American Board Of Medical Genetics And Genomics , American Board Of Medical Genetics And Genomics , American Board Of Pediatrics , American Board Of Medical Genetics And Genomics , and American Board Of Medical Genetics And Genomics.
State University Of Iowa
Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Miller Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.
Published Date: March 13, 2025
Published By: National Institutes of Health