Craniofrontonasal Syndrome (CFNS)

Alias:

Craniofrontonasal Dysplasia

Cfns

Cfnd

Craniofrontonasal Dysostosis

Dysplasia, Craniofrontonasal

Craniofrontonasal Dystosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Craniofrontonasal Syndrome, also known as craniofrontonasal dysplasia, is related to frontonasal dysplasia 1 and synostosis, and has symptoms including grooving of nail An important gene associated with Craniofrontonasal Syndrome is EFNB1 (Ephrin B1), and among its related pathways/superpathways are Nervous system development and p70S6K Signaling. Affiliated tissues include bone and brain, and related phenotypes are frontal bossing and hypertelorism

Related ID：

MALACARDS：CRN005

OMIM：304110

MESH：C536456