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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the SOX2 gene cause AEG syndrome. This gene provides instructions for making a protein that regulates the activity of other genes, including those that are important for the normal development of the eyes.</p><p>The SOX2 protein plays a critical role in the formation of many different tissues and organs during embryonic development. Variants in the SOX2 gene can cause cells to produce a version of the SOX2 protein that does not function properly. As a result, the protein cannot regulate the activity of genes that are essential for the development of the eyes and other parts of the body. Abnormal development of these structures causes the signs and symptoms of AEG syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/anophthalmia-microphthalmia-esophageal-atresia-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Anophthalmia/microphthalmia-esophageal atresia syndrome?"},{"bodyHtml":"<p>People who have AEG syndrome are usually born without one or both eyes (anophthalmia), although some individuals have underdeveloped and abnormally small eyes (microphthalmia). People who have anophthalmia have no vision in the affected eye, but people who have microphthalmia may or may not have significant vision loss.</p><p>Affected individuals who have some remaining eye tissue can have additional eye abnormalities. Some people may be missing pieces of tissue in the structures that form the eye (coloboma), or the nerves that carry signals between the eyes and the brain may be underdeveloped (optic nerve hypoplasia). The presence of other eye problems can worsen an affected person&#x27;s vision.</p><p>Some people with AEG syndrome are born with a blocked esophagus (esophageal atresia), which is often accompanied by an abnormal connection between the windpipe (trachea) and the esophagus (tracheoesophageal fistula). Additional features of AEG syndrome can include brain abnormalities, slow growth, delayed development of motor skills (such as walking), and intellectual disabilities. Affected individuals may also have genital abnormalities, which can include undescended testes (cryptorchidism) and an unusually small penis.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/anophthalmia-microphthalmia-esophageal-atresia-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"anophthalmia-microphthalmia-esophageal-atresia-syndrome","sourceDocuments":[{"name":"Anophthalmia/microphthalmia-esophageal atresia syndrome","reviewed":"2025-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:26.372891+00:00","label":"Causes","pageSha256":"6678918082d036e0f850fcfe6886a891e303c618ab4807e3fc99405d8cc86c23","sourceUrl":"https://medlineplus.gov/genetics/condition/anophthalmia-microphthalmia-esophageal-atresia-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/anophthalmia-microphthalmia-esophageal-atresia-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":"Anophthalmia/microphthalmia-esophageal atresia syndrome"},"schemaVersion":1}