Craniosynostosis 6

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OMIM 53 616602 MedGen 39 C4225269 CN233152

MeSH 41 D003398 SNOMED-CT via HPO 65 263681008 13649004 271611007 48069004 82779003 194021007 22006008 60700002 11934000 224958001 95646004 5102002 14447001 254024005 57219006 111266001 64217002 76916001 more

OMIM : ⁵³ 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 (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). (616602)

MalaCards based summary : Craniosynostosis 6, is also known as crs6, and has symptoms including hypertelorism, agenesis of corpus callosum and ptosis. An important gene associated with Craniosynostosis 6 is ZIC1 (Zic Family Member 1). Affiliated tissues include brain and pons.

UniProtKB/Swiss-Prot : ⁷¹ Craniosynostosis 6: A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.

Clinical features from OMIM:

616602

Search Clinical Trials , NIH Clinical Center for Craniosynostosis 6

Search GEO for disease gene expression data for Craniosynostosis 6.