Craniofrontonasal syndrome

Craniofrontonasal syndrome
Craniofrontonasal syndrome
Classification and external resources
OMIM 304110

Craniofrontonasal syndrome is an X-linked syndrome which is more severe in females than males. Often males will have only hypertelorism (far apart eyes), whereas females have frontonasal dysplasia, craniofacial asymmetry, bifid nasal tip, grooved nails, wiry hair and anomalies of the thoracic skeleton.

Most cases arise from mutations in the gene for EFNB1.[1][2][3]

References

External links



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