Introduction to Craniofrontonasal Syndrome

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10.1038/s10038-019-0638-9

Craniofrontonasal syndrome (CFNS) (OMIM #304110) is a very rare, X-linked developmental disorder characterized by facial stigmata, including hypertelorism, frontonasal dysplasia, craniosynostosis, bifid nasal tip, and digital abnormalities.

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10.3760/CMA.J.ISSN.1009-4598.2019.06.019

Craniofrontonasal syndrome/dysplasia(CFNS/CFSD) is a rare X-linked malformation syndrome caused by EFNB1 gene mutations.

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10.1101/704619

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder characterized by craniofacial, skeletal, and neurological anomalies and caused by mutations in EFNB1.

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10.5935/ABC.20190033

Craniofrontonasal syndrome (CFNS; OMIM# 304110) is one of the craniofacial conditions that fall into the group called Craniofacial Dysostosis syndromes.

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Craniofrontonasal Syndrome

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Jan 30, 2023

What is/are Craniofrontonasal Syndrome?

Craniofrontonasal Syndrome - Craniofrontonasal syndrome (CFNS) (OMIM #304110) is a very rare, X-linked developmental disorder characterized by facial stigmata, including hypertelorism, frontonasal dysplasia, craniosynostosis, bifid nasal tip, and digital abnormalities. ^[1] Craniofrontonasal syndrome/dysplasia(CFNS/CFSD) is a rare X-linked malformation syndrome caused by EFNB1 gene mutations. ^[2] Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder characterized by craniofacial, skeletal, and neurological anomalies and caused by mutations in EFNB1. ^[3] Craniofrontonasal syndrome (CFNS; OMIM# 304110) is one of the craniofacial conditions that fall into the group called Craniofacial Dysostosis syndromes. ^[4]