Global InformationCraniofrontonasal dysplasia information
| Craniofrontonasal dysplasia | |
|---|---|
| Other names | Craniofrontonasal dysostosis |
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| This condition is inherited in an X-linked dominant manner. However, unlike most X-linked conditions, it is more severe in females, due to cell–cell interaction mechanisms involving the responsible gene (EFNB1) when it is present in only some cells (mosaic). | |
| Specialty | Medical genetics  |
Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1).[1][2] Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.[1][2] 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.[3][4][5][6]
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.[7]
- ^ a b Cite error: The named reference
Mutations of the ephrin-B1 gene cause craniofrontonasal syndromewas invoked but never defined (see the help page). - ^ a b Cite error: The named reference
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndromewas invoked but never defined (see the help page). - ^ Cite error: The named reference
headlineswas invoked but never defined (see the help page). - ^ Cite error: The named reference
Diverse clinical and genetic aspects of craniofrontonasal syndromewas invoked but never defined (see the help page). - ^ Cite error: The named reference
Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerationswas invoked but never defined (see the help page). - ^ Cite error: The named reference
Craniofrontonasal dysplasia: a surgical treatment algorithmwas invoked but never defined (see the help page).