Craniosynostosis 4

Preferred Label : Craniosynostosis 4;

Symbol : CRS4;

CISMeF acronym : CRS4;

Type : Phenotype, molecular basis known;

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). Mutation in the ERF gene has been found to cause several forms of craniosynostosis, including lambdoid, sagittal, metopic, coronal, and multisuture. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ETS2 repressor factor gene (ERF, 611888.0001);

Prefixed ID : #600775;

Details

Origin ID

600775;

UMLS CUI

C3806917;

Automatic exact mappings (from CISMeF team)
- synostotic posterior plagiocephaly [MeSH concept]
Currated CISMeF NLP mapping
- Familial lambdoid synostosis [ORDO Disease]
DO Cross reference
- craniosynostosis [DO Concept]
Genes related to phenotype
- Ets2 repressor factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bicoronal synostosis [HPO term]
- Chiari type I malformation [HPO term]
- Childhood onset [HPO term]
- Coronal craniosynostosis [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Diminished ability to concentrate [HPO term]
- Ectopic posterior pituitary [HPO term]
- Hypertelorism [HPO term]
- Increased intracranial pressure [HPO term]
- Infantile onset [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Metopic synostosis [HPO term]
- Midface retrusion [HPO term]
- Optic nerve hypoplasia [HPO term]
- Pansynostosis [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Retrognathia [HPO term]
- Sagittal craniosynostosis [HPO term]
ORDO concept(s)
- Familial lambdoid synostosis [ORDO Disease]
- Isolated cloverleaf skull syndrome [ORDO Disease]
- Non-syndromic sagittal craniosynostosis [ORDO Disease]
See also inter- (CISMeF)
- Lambdoidal craniosynostosis [HPO term]
- Parieto-occipital craniosynostosis (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial lambdoid synostosis [ORDO Disease]
Validated automatic mappings to NTBT
- craniosynostoses [MeSH Descriptor]
- craniosynostosis [DO Concept]

Keyword's position in hierarchy(ies) :

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