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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules.</p><p>EFTUD2 gene mutations that cause MFDM result in the production of little or no functional enzyme from one copy of the gene in each cell. A shortage of this enzyme likely impairs mRNA processing. The relationship between these mutations and the specific symptoms of MFDM is not well understood.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/mandibulofacial-dysostosis-with-microcephaly/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Mandibulofacial dysostosis with microcephaly?"},{"bodyHtml":"<p>Facial abnormalities that occur in MFDM include underdevelopment of the middle of the face and the cheekbones (midface and malar hypoplasia) and an unusually small lower jaw (mandibular hypoplasia, also called micrognathia). The external ears are small and abnormally shaped, and they may have skin growths in front of them called preauricular tags. There may also be abnormalities of the ear canal, the tiny bones in the ears (ossicles), or a part of the inner ear called the semicircular canals. These ear abnormalities lead to hearing loss in most affected individuals. Some people with MFDM have an opening in the roof of the mouth (cleft palate), which may also contribute to hearing loss by increasing the risk of ear infections. Affected individuals can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems.</p><p>Heart problems, abnormalities of the thumbs, and short stature are other features that can occur in MFDM. Some people with this disorder also have blockage of the esophagus (esophageal atresia). In esophageal atresia, the upper esophagus does not connect to the lower esophagus and stomach. Most babies born with esophageal atresia (EA) also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening condition; without treatment, it prevents normal feeding and can cause lung damage from repeated exposure to esophageal fluids.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/mandibulofacial-dysostosis-with-microcephaly\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"mandibulofacial-dysostosis-with-microcephaly","sourceDocuments":[{"name":"Mandibulofacial dysostosis with microcephaly","reviewed":"2014-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:05.379561+00:00","label":"Causes","pageSha256":"bc1b3c8589dfc6874595aeb8bd350a5594f4685b5421db0eb621f8a603e95714","sourceUrl":"https://medlineplus.gov/genetics/condition/mandibulofacial-dysostosis-with-microcephaly/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/mandibulofacial-dysostosis-with-microcephaly"}],"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":"Mandibulofacial dysostosis with microcephaly"},"schemaVersion":1}