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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>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.</p><p>It is unclear exactly how DHODH gene variants lead to the signs and symptoms seen in people with Miller syndrome. Miller syndrome appears to disrupt the development of structures called the first and second pharyngeal arches. The pharyngeal arches are paired structures that form on each side of the head and neck during embryonic development. These structures ultimately develop into the bones, nerves, and muscles of the head and neck. Dihydroorotate dehydrogenase appears to be active in the pharyngeal arches during embryonic development. DHODH gene variants likely cause cells to produce altered versions of the enzyme, but researchers are unsure exactly how these altered versions of dihydroorotate dehydrogenase cause the specific facial features seen in people with Miller syndrome.</p><p>The development of the arms and legs is also affected in people with Miller syndrome. During embryonic development, each limb starts out as a small mound of tissue called a limb bud, which grows outward. Though dihydroorotate dehydrogenase appears to be active in the limb buds during the early stages of development, it is not clear how variants in the DHODH gene cause the specific bone abnormalities seen in people with Miller syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/miller-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Miller syndrome?"},{"bodyHtml":"<p>Individuals with Miller syndrome typically have facial differences, which can include underdeveloped cheek bones (malar hypoplasia), a small lower jaw (micrognathia), and an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). These facial differences can cause feeding problems in infants with Miller syndrome. In some affected individuals, micrognathia may restrict the airway, which can also lead to breathing problems. Other facial features can include eyes that slant downward, eyelids that turn outward so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma.</p><p>Many individuals with Miller syndrome also have small, cup-shaped ears. Some affected individuals have hearing loss caused by defects in the middle ear (conductive hearing loss), which can lead to a delay in speech development.</p><p>The bones of the arms and legs often develop abnormally in people with Miller syndrome. The most common problem is the absence of the fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and underdeveloped bones in the forearms. Another feature of Miller syndrome is the presence of extra nipples. Abnormalities of the heart have also been reported in individuals with this condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/miller-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"miller-syndrome","sourceDocuments":[{"name":"Miller syndrome","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:21.137692+00:00","label":"Causes","pageSha256":"760af1411be821487b995b963c2ce37827944c7e193b1a1c34655becf17ace4f","sourceUrl":"https://medlineplus.gov/genetics/condition/miller-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/miller-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Miller syndrome"},"schemaVersion":1}