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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the SALL4 gene cause Duane-radial ray syndrome. The SALL4 gene plays a role in the proper formation of tissues and organs before birth. This gene provides instructions for making a protein that acts as a transcription factor, which means it binds to specific regions of DNA and helps control the activity of particular genes. Although the exact function of the SALL4 protein is unclear, it appears to be important for the normal development of the eyes, heart, and limbs.</p><p>Most of the pathogenic variants in the SALL4 gene that cause Duane-radial ray syndrome are considered “loss-of-function variants” because they reduce the activity of the SALL4 protein or decrease the amount of protein that is produced by cells. While a reduction in the amount of SALL4 protein seems to affect development before birth, it is unclear why the eyes, arms, and hands are particularly affected in people with Duane-radial ray syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Duane-radial ray syndrome?"},{"bodyHtml":"<p>Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a long thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are known as radial ray malformations.</p><p>People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and upward-turning foot (clubfoot), and fused spinal bones (vertebrae).</p><p>The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders. For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions are caused by mutations in the same gene. Based on these similarities, researchers suspect that Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an overlapping set of syndromes with many possible signs and symptoms. The features of Duane-radial ray syndrome are also similar to those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"duane-radial-ray-syndrome","sourceDocuments":[{"name":"Duane-radial ray syndrome","reviewed":"2009-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:04.824966+00:00","label":"Causes","pageSha256":"73204499b3b2bd0c6dfa94cd9437344fcb9700e53063f8bbe520c7fc9eeef395","sourceUrl":"https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/duane-radial-ray-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":"Duane-radial ray syndrome"},"schemaVersion":1}