Craniosynostosis 2

Preferred Label : Craniosynostosis 2;

Symbol : CRS2;

CISMeF acronym : CRS2; CSB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CSB; Craniosynostosis, boston-type;

Description : Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the msh homeobox 2 gene (MSX2, 123101.0001);

Prefixed ID : #604757;

Détails

Origin ID

604757;

UMLS CUI

C1858160;

Automatic exact mappings (from CISMeF team)
- Cellulose sodium phosphate (substance) [SNOMED CT concept]
- Chemotherapy Response Score 2 [NCIt concept]
- ERCC excision repair 6, chromatin remodeling factor [ORDO Gene]
- ERCC6 wt Allele [NCIt concept]
- Kashubian Language [NCIt concept]
- comma-shaped body [UBERON concept]
- msh homeobox 2 [ORDO Gene]
- msh homeobox 2 [HGNC gene]
CISMeF manual mappings
- Craniosynostosis Boston type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Craniosynostosis, Boston type [ICD-11 More detail]
- Craniosynostosis, Boston type [ORDO Disease]
- craniosynostosis, type 2 [MeSH concept]
- craniosynostosis, type 2 [MeSH Supplementary Concept]
DO Cross reference
- craniosynostosis [DO Concept]
Genes related to phenotype
- Msh homeobox 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bicoronal synostosis [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Brachyturricephaly [HPO term]
- Cleft soft palate [HPO term]
- Craniosynostosis [HPO term]
- Frontal bossing [HPO term]
- Headache [HPO term]
- Hypermetropia [HPO term]
- Hypotelorism [HPO term]
- Myopia [HPO term]
- Seizure [HPO term]
- Supernumerary tooth [HPO term]
- Trigonocephaly [HPO term]
- Triphalangeal thumb [HPO term]
- Turricephaly [HPO term]
- Unicoronal synostosis [HPO term]
- Visual field defect [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Craniosynostosis, Boston type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniosynostosis Boston type (disorder) [SNOMED CT concept]
- craniosynostosis, type 2 [MeSH Supplementary Concept]
- craniosynostosis, type 2 [MeSH concept]

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