Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Orpha code: 357158OMIM code: 602562

Definition

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
Classification

Disease

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

No additional description.

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