Miller Syndrome Overview
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.
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Gijs Santen practices in Leiden, Netherlands. Santen is rated as an Elite expert by MediFind in the treatment of Miller Syndrome. Their top areas of expertise are Micrognathia, Coffin-Siris Syndrome, Miller Syndrome, and KBG Syndrome.
Yoshinori Tsurusaki practices in Sagamihara, Japan. Mr. Tsurusaki is rated as an Elite expert by MediFind in the treatment of Miller Syndrome. His top areas of expertise are Miller Syndrome, Coffin-Siris Syndrome, Hand-Foot-Genital Syndrome, and Micrognathia.
Noriko Miyake practices in Tokyo, Japan. Ms. Miyake is rated as an Elite expert by MediFind in the treatment of Miller Syndrome. Her top areas of expertise are Coffin-Siris Syndrome, Kabuki Syndrome, Microcephaly, Fasciotomy, and Bone Marrow Transplant.
Published Date: March 13, 2025
Published By: National Institutes of Health