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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

1. Hypertelorism
2. Craniosynostoses (Craniosynostosis)
3. Congenital Diaphragmatic Hernias
4. Synostosis
5. Craniofrontonasal dysplasia

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:
1. Ephrin-B1 (Ephrin B1)IBA
2. EphrinsIBA
3. LigandsIBA
4. Ephrin-A4 (Ephrin A4)IBA
5. EphA1 Receptor (Eph Receptor)IBA
6. 5' Untranslated Regions (5' UTR)IBA
7. Nonsense Codon (Nonsense Mutation)IBA
8. Messenger RNA (mRNA)IBA
9. Proteins (Proteins, Gene)FDA Link

Therapies and Procedures

1. Sutures (Suture)
2. Osteotomy