Craniosynostosis 5, susceptibility to

Preferred Label : Craniosynostosis 5, susceptibility to;

Symbol : CRS5;

CISMeF acronym : CRS5;

Type : Phenotype, molecular basis known;

Description : Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by Yagnik et al., 2012). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the homolog of the mouse aristaless-like 4 gene (ALX4, 605420.0009);

Prefixed ID : #615529;

Détails

Origin ID

615529;

UMLS CUI

C3809819;

Genes related to phenotype
- Aristaless homeobox 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Craniosynostosis [HPO term]
ORDO concept(s)
- Non-syndromic sagittal craniosynostosis [ORDO Disease]
See also inter- (CISMeF)
- Non-syndromic sagittal craniosynostosis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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