Craniosynostosis and dental anomalies

Preferred Label : Craniosynostosis and dental anomalies;

Symbol : CRSDA;

CISMeF acronym : CRSDA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kreiborg-pakistani syndrome;

Description : This autosomal recessive disorder is characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 11 receptor alpha gene (IL11RA, 600939.0001);

Prefixed ID : #614188;

Details

Origin ID

614188;

UMLS CUI

C3280073;

Automatic exact mappings (from CISMeF team)
- IL11RA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Craniosynostosis and dental anomalies syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis-dental anomalies [ORDO Disease]
Genes related to phenotype
- Interleukin 11 receptor, alpha [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Clinodactyly [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis [HPO term]
- Delayed eruption of teeth [HPO term]
- Dolichocephaly [HPO term]
- Fingernail dysplasia [HPO term]
- Flat forehead [HPO term]
- Hallux valgus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Papilledema [HPO term]
- Sagittal craniosynostosis [HPO term]
- Scaphocephaly [HPO term]
- Short phalanx of finger [HPO term]
- Supernumerary tooth [HPO term]
- Syndactyly [HPO term]
- Trigonocephaly [HPO term]
- Turricephaly [HPO term]
ORDO concept(s)
- Craniosynostosis-dental anomalies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniosynostosis and dental anomalies syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis-dental anomalies [ORDO Disease]

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