Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Orpha code: 357158OMIM code: 602562

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
Zespół macroblepharon - ektropion - hiperteloryzm - makrostomia
Kod ORPHA
357158
Kod OMIM
602562
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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