Craniofrontonasal dysplasia
An X-linked developmental disorder that is more severe in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, CRANIOSYNOSTOSIS; bifid nasal tip, grooved nails, wiry hair, and thoracic skeleton abnormalities; males typically show only HYPERTELORISM. It is caused by mutations in the EPHRIN-B1 (EFNB1) gene. OMIM: 304110
Also Known As:
Craniofrontonasal dysostosis; Craniofrontonasal syndrome
Networked: 47
relevant articles (0 outcomes,
0 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Bush, Jeffrey O:
6 articles
(01/2020 - 10/2006)
|
2. | Twigg, Stephen R F:
6 articles
(02/2019 - 06/2004)
|
3. | Wieland, Ilse:
6 articles
(03/2015 - 06/2004)
|
4. | Wilkie, Andrew O M:
5 articles
(04/2013 - 06/2004)
|
5. | Wieacker, Peter:
4 articles
(06/2010 - 06/2004)
|
6. | Niethamer, Terren K:
3 articles
(01/2020 - 10/2016)
|
7. | Babbs, Christian:
3 articles
(04/2013 - 06/2004)
|
8. | Goriely, Anne:
3 articles
(04/2013 - 06/2006)
|
9. | Wall, Steven A:
3 articles
(04/2013 - 06/2004)
|
10. | Soriano, Philippe:
3 articles
(09/2010 - 10/2006)
|
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Craniofrontonasal dysplasia:
Therapies and Procedures