craniosynostosis type 1

(redirected from craniostenosis, craniosynostosis)

craniosynostosis type 1

A condition (OMIM:123100) characterised by premature fusion of one or more cranial sutures, resulting in an abnormal head shape.

Molecular pathology
Defects of TWIST1, which encodes a basic helix-loop-helix (bHLH) transcription factor, cause craniosynostosis type 1.
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