Craniofrontonasal Dysplasia

Common Name(s)

Craniofrontonasal Dysplasia

Craniofrontonasal dysplasia is a rare genetic condition caused by a change (mutation) in the EFNB1 gene.  Main features of this condition include widely spaced eyes (hypertelorism), broad-tipped nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, and/or crossed eyes (strabismus).   Individuals with craniofrontonasal dysplasia have normal intelligence.  Women affected with this condition generally have more symptoms than affected men.    Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Craniofrontonasal Dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Craniofrontonasal Dysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

Experience of surgical treatment for craniofrontonasal dysplasia.
 

Author(s): H Suzuki, T Nara, S Minato, H Kamiishi

Journal: Tohoku J. Exp. Med.. 1991 Aug;164(4):251-7.

 

We present a case of a 5-year-old girl diagnosed as having craniofrontonasal dysplasia (CFND), which was first reported by Cohen in 1979. CFND is very rare and reports concerning this syndrome have never been found in Japan. In our case, frontal plagiocephaly, third degree orbital ...

Last Updated: 14 Jan 1992

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Craniofrontonasal dysplasia.
 

Author(s): J Hurst, M Baraitser

Journal: J. Med. Genet.. 1988 Feb;25(2):133-4.

 

Last Updated: 21 Apr 1988

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Craniofrontonasal dysplasia.
 

Author(s): I D Young

Journal: J. Med. Genet.. 1987 Apr;24(4):193-6.

 

Last Updated: 16 Jul 1987

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Craniofrontonasal Dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.