Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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