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foramina","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002315","is_excluded":false,"label":"Headache","onset_id":null,"reference":"OMIM:168500","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fe652053eb192cc6b6ece7a4b05e62ed6fdb1473c7a361dae6e9af75179ed71f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:60015","disease_name":"Enlarged parietal foramina","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100809","is_excluded":false,"label":"Scalp tenderness","onset_id":null,"reference":"ORPHA:60015","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina\">Enlarged parietal foramina</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ALX4 gene account for 60 percent of cases of enlarged parietal foramina and mutations in the MSX2 gene account for 40 percent of cases. These genes provide instructions for producing proteins called transcription factors, which are required for proper development throughout the body. Transcription factors attach (bind) to specific regions of DNA and help control the activity of particular genes. The ALX4 and MSX2 transcription factor proteins are involved in regulating genes that are needed in various cell processes in early development.</p><p>Mutations in either the ALX4 or MSX2 gene likely impair the ability of their respective transcription factors to bind to DNA. As a result, the regulation of multiple genes is altered, which disrupts a number of necessary cell functions. The processes that guide skull development seem to be particularly sensitive to changes in the activity of these transcription factors.</p><p>If the condition is caused by a mutation in the MSX2 gene, it is called enlarged parietal foramina type 1. Mutations in the ALX4 gene cause enlarged parietal foramina type 2. There appears to be no difference in the size of the openings between enlarged parietal foramina types 1 and 2.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Enlarged parietal foramina?"},{"bodyHtml":"<p>The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings.</p><p>There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"enlarged-parietal-foramina","sourceDocuments":[{"name":"Enlarged parietal foramina","reviewed":"2016-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:10.862821+00:00","label":"Causes","pageSha256":"ee6afb88a9d8a829a04ad218f0da2f7b59e2ef0a6d23aca16e400bfe0ea914e8","sourceUrl":"https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina"}],"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":"Enlarged parietal foramina"},"schemaVersion":1}