Craniofrontonasal dysplasia

Craniofrontonasal dysplasia
Other namesCraniofrontonasal dysostosis
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).
SpecialtyMedical 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]

  1. ^ a b Cite error: The named reference Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome was invoked but never defined (see the help page).
  2. ^ a b Cite error: The named reference Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome was invoked but never defined (see the help page).
  3. ^ Cite error: The named reference headlines was invoked but never defined (see the help page).
  4. ^ Cite error: The named reference Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia was invoked but never defined (see the help page).
  5. ^ Cite error: The named reference Diverse clinical and genetic aspects of craniofrontonasal syndrome was invoked but never defined (see the help page).
  6. ^ Cite error: The named reference Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations was invoked but never defined (see the help page).
  7. ^ Cite error: The named reference Craniofrontonasal dysplasia: a surgical treatment algorithm was invoked but never defined (see the help page).
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