Craniosynostosis 7 (CRS7)

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OMIM®: ⁵⁷ 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). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). (617439) (Updated 08-Dec-2022)

MalaCards based summary: Craniosynostosis 7, also known as craniosynostosis 7, susceptibility to, is related to hepatitis c and hepatitis. An important gene associated with Craniosynostosis 7 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Signaling by TGFB family members and Signaling by BMP. Affiliated tissues include brain, and related phenotypes are delayed speech and language development and craniosynostosis

UniProtKB/Swiss-Prot: ⁷³ 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®:

Search Clinical Trials, NIH Clinical Center for Craniosynostosis 7