Muenke Syndrome (MNKES)

Muenke Syndrome(来自ICD-11)

别称:

Muenke Nonsyndromic Coronal Craniosynostosis

Fgfr3-Associated Coronal Synostosis

Fgfr3-Related Craniosynostosis

Muenke Non-Syndromic Coronal Craniosynostosis

Fgfr3-Related Isolated Coronal Synostosis

Mnkes

Mnks

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muenke Syndrome, also known as muenke nonsyndromic coronal craniosynostosis, is related to hypertelorism and plagiocephaly. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include bone and skin, and related phenotypes are ptosis and hypertelorism

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