Trigonocephaly 2

Preferred Label : Trigonocephaly 2;

Symbol : TRIGNO2;

CISMeF acronym : TRIGNO2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniosynostosis, metopic;

Description : Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011). For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (190440). A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see 158170).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the FRAS1-related extracellular matrix protein-1 gene (FREM1, 608944.0008);

Prefixed ID : #614485;

Details

Origin ID

614485;

UMLS CUI

C3280974;

Automatic exact mappings (from CISMeF team)
- Metopic synostosis [HPO term]
- Trigonocephaly [ICD-11 More detail]
- trigonocephaly, nonsyndromic [MeSH Supplementary Concept]
False automatic mappings
- Interfrontal craniofaciosynostosis (disorder) [SNOMED CT concept]
Genes related to phenotype
- Fras1-related extracellular matrix protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypertelorism [HPO term]
- Metopic synostosis [HPO term]
- Microcephaly [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- Non-syndromic metopic craniosynostosis [ORDO Disease]
See also inter- (CISMeF)
- Non-syndromic metopic craniosynostosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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