Craniofrontonasal Syndrome

Craniofrontonasal dysplasia (Craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the Ephrin-B1 gene (EFNB1). Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.

Common physical malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, bifid nasal tip, dry frizzy curled hair, longitudinal ridging and / or splitting of the nails, and facial asymmetry.

The diagnosis CFND is determined by the presence of a mutation in the EFNB1 gene. Physical characteristics may play a supportive role in establishing the diagnosis.

The treatment is always surgical and is based on each patients specific phenotypic presentation.

Read more about Craniofrontonasal SyndromeEpidemiology, Phenotype, Genetics and Heritability, Diagnosis, Treatment

Other articles related to "craniofrontonasal syndrome":

Craniofrontonasal Syndrome - Treatment
... Surgical corrections for the main symptoms Craniosynostosis correction The preferred age for this procedure is between 6-9 months of age ... Performing this surgery at such an early age can limit the further development of facial asymmetry, if the asymmetry is caused by the craniosynostosis, and prevents prolonged elevated intracranial pressure (ICP) ...

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