Mandibulofacial dysostosis with macroblepharon and macrostomia

Preferred Label : Mandibulofacial dysostosis with macroblepharon and macrostomia;

CISMeF acronym : MEHM;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Verloes-lesenfants syndrome; MEHM; Macroblepharon, ectropion, hypertelorism, and macrostomia;

Inheritance : Isolated cases;

Prefixed ID : 602562;

Details

Origin ID

602562;

UMLS CUI

C1865181;

Currated CISMeF NLP mapping
- Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome (disorder) [SNOMED CT concept]
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome [ORDO Disease]
- mandibulofacial dysostosis with macroblepharon and macrostomia [MeSH concept]
- mandibulofacial dysostosis with macroblepharon and macrostomia [MeSH Supplementary Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Conjunctivitis [HPO term]
- Corneal opacity [HPO term]
- Downslanted palpebral fissures [HPO term]
- Ectropion [HPO term]
- Flat face [HPO term]
- Hemangioma [HPO term]
- Hypertelorism [HPO term]
- Keratitis [HPO term]
- Large fontanelles [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Mandibulofacial dysostosis [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Oligodontia [HPO term]
- Posteriorly rotated ears [HPO term]
- Recurrent otitis media [HPO term]
- Round face [HPO term]
- Smooth philtrum [HPO term]
- Sporadic [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome [ORDO Disease]
- mandibulofacial dysostosis with macroblepharon and macrostomia [MeSH Supplementary Concept]
- mandibulofacial dysostosis with macroblepharon and macrostomia [MeSH concept]

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