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In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Structural changes that involve the loss of a large section of DNA on the X chromosome cause about 90 percent of cases of microphthalmia with linear skin defects syndrome. This deleted section always includes the HCCS gene. Changes in the HCCS gene, called pathogenic variants, can also cause microphthalmia with linear skin defects syndrome.</p><p>The HCCS gene provides instructions for making an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitochondria, the energy-producing centers within cells.</p><p>Within the mitochondria, holocytochrome c-type synthase helps produce a molecule called cytochrome c. Cytochrome c is involved in a process called oxidative phosphorylation, by which mitochondria generate adenosine triphosphate (ATP), the cell&#x27;s main energy source. Cytochrome c also plays a role in the self-destruction of cells (apoptosis).</p><p>Pathogenic variants in the HCCS gene or the deletion of this gene prevent cells from producing functional holocytochrome c-type synthase. Without this enzyme, cytochrome c is not produced and oxidative phosphorylation is impaired. As a result, cells cannot make the ATP they need to function. In addition, nonfunctional cells may not be able to go through the typical apoptosis pathway. Instead, these cells may die through an alternative apoptosis pathway that is more common for nerve cells. Developing cells may have unique responses to the lack of functional holocytochrome c-type synthase and this alternative apoptosis pathway, which could account for the differences in the effects of microphthalmia with linear skin defects syndrome.</p><p>Pathogenic variants in other genes on the X chromosome are responsible for a small percentage of cases of microphthalmia with linear skin defects syndrome. These genes are also active in the mitochondria and play roles in oxidative phosphorylation.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/microphthalmia-with-linear-skin-defects-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Microphthalmia with linear skin defects syndrome?"},{"bodyHtml":"<p>The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family. In addition to the characteristic eye problems and skin markings, this condition can cause abnormalities in the brain, heart, and genitourinary system. A hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia, may occur in people with this disorder. Affected individuals may also have short stature and fingernails and toenails that do not grow normally (nail dystrophy).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/microphthalmia-with-linear-skin-defects-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"microphthalmia-with-linear-skin-defects-syndrome","sourceDocuments":[{"name":"Microphthalmia with linear skin defects syndrome","reviewed":"2009-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:19.782835+00:00","label":"Causes","pageSha256":"a2e7431d64565b86a14cfdd70b6a23453ece159053e1a4835a9edb014f70d3c5","sourceUrl":"https://medlineplus.gov/genetics/condition/microphthalmia-with-linear-skin-defects-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/microphthalmia-with-linear-skin-defects-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":"Microphthalmia with linear skin defects syndrome"},"schemaVersion":1}