Hypomandibular faciocranial dysostosis

Preferred Label : Hypomandibular faciocranial dysostosis;

Type : Phenotype or locus, molecular basis unknown;

Description : Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001).;

Inheritance : Autosomal recessive;

Prefixed ID : %241310;

Details

Origin ID

241310;

UMLS CUI

C1855848;

Currated CISMeF NLP mapping
- Hypomandibular faciocranial dysostosis [MeSH concept]
- Hypomandibular faciocranial dysostosis [ORDO Disease]
- Hypomandibular faciocranial dysostosis (disorder) [SNOMED CT concept]
- hypomandibular faciocranial dysostosis [MeSH Supplementary Concept]
HPO term(s)
- Aglossia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choanal stenosis [HPO term]
- Coronal craniosynostosis [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Optic disc coloboma [HPO term]
- Patent ductus arteriosus [HPO term]
- Pursed lips [HPO term]
ORDO concept(s)
- Hypomandibular faciocranial dysostosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomandibular faciocranial dysostosis [ORDO Disease]
- Hypomandibular faciocranial dysostosis [MeSH concept]
- Hypomandibular faciocranial dysostosis (disorder) [SNOMED CT concept]
- hypomandibular faciocranial dysostosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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