Teeth, noneruption of, with maxillary hypoplasia and genu valgum

Preferred Label : Teeth, noneruption of, with maxillary hypoplasia and genu valgum;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Among the 10 children of first-cousin parents, Stoelinga et al. (1976) described 2 males and 2 females with nonerupted permanent teeth, hypoplasia of the alveolar process, maxillozygomatic hypoplasia with underdeveloped maxillary sinuses, and severe genu valgum requiring surgery. All had delayed eruption of the primary teeth, which, however, were eventually shed. The ears were somewhat deformed. *FIELD* RF 1. Stoelinga, P. J. W.; de Koomen, H. A.; Davis, G. B.: Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects: an autosomal recessive disorder. Clin. Genet. 10: 222-225, 1976. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 273050;

Details

Origin ID

273050;

UMLS CUI

C1848903;

Currated CISMeF NLP mapping
- Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) [SNOMED CT concept]
- Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome [ORDO Disease]
- Stoelinga de Koomen Davis syndrome [MeSH concept]
- Teeth noneruption of with maxillary hypoplasia and genu valgum [MeSH concept]
- stoelinga de koomen davis syndrome [MeSH Supplementary Concept]
- teeth noneruption of with maxillary hypoplasia and genu valgum [MeSH Supplementary Concept]
HPO term(s)
- Alveolar process hypoplasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Eruption failure [HPO term]
- Genu valgum [HPO term]
- Low-set ears [HPO term]
- Maxillozygomatic hypoplasia [HPO term]
- Multiple non-erupting secondary teeth [HPO term]
- Posteriorly rotated ears [HPO term]
ORDO concept(s)
- Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Teeth noneruption of with maxillary hypoplasia and genu valgum [MeSH concept]
- teeth noneruption of with maxillary hypoplasia and genu valgum [MeSH Supplementary Concept]

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