Mandibulofacial dysostosis with impaired intellectual development

Preferred Label : Mandibulofacial dysostosis with impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mandibulofacial dysostosis with mental retardation;

Description : Jancar (1961) described a family with possible recessive inheritance. The changes in the head were reminiscent of those of trisomy 17-18. However, in one of the affected males no abnormality of the chromosomes was detected. *FIELD* RF 1. Jancar, J.: Mandibulo-facial dysostosis (Berry-Franceschetti syndrome). J. Irish Med. Assoc. 48: 145-148, 1961. *FIELD* CS Neuro: Mental retardation;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Normal male karyotype;

Prefixed ID : 248400;

Details

Origin ID

248400;

UMLS CUI

C4692584;

Currated CISMeF NLP mapping
- mandibulofacial dysostosis with mental deficiency [MeSH concept]
- mandibulofacial dysostosis with mental deficiency [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the outer ear [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Downslanted palpebral fissures [HPO term]
- EEG abnormality [HPO term]
- High palate [HPO term]
- Intellectual disability [HPO term]
- Lower eyelid coloboma [HPO term]
- Malar flattening [HPO term]
- Mandibulofacial dysostosis [HPO term]
- Micrognathia [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mandibulofacial dysostosis with mental deficiency [MeSH Supplementary Concept]
- mandibulofacial dysostosis with mental deficiency [MeSH concept]

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