Craniofrontonasal syndrome

Definition:

Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities.

References:

[1]. Peter Wieacker, et al. Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Mol Genet Metab. 2005 Sep-Oct;86(1-2):110-6. [Content Brief]

[2]. Stephen R F Twigg, et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet. 2013 Apr 15;22(8):1654-62. [Content Brief]

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