Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

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Synonyms: Macroblepharon-ectropion-hypertelorism-macrostomia syndrome

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon ectropion and facial dysmorphism which includes severe hypertelorism downslanting palpebral fissures posteriorly rotated ears broad nasal bridge long and smooth philtrum and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles prominent metopic ridge thick eyebrows mild synophrys increased density of upper eyelashes anterverted nares abnormal dentition and capillary hemangioma.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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