- Craniofrontonasal syndrome
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Craniofrontonasal syndrome Classification and external resources OMIM 304110 Craniofrontonasal syndrome is an X-linked syndrome which is more severe in females than males. Often males will have only hypertelorism (far apart eyes), whereas females have frontonasal dysplasia, craniofacial asymmetry, bifid nasal tip, grooved nails, wiry hair and anomalies of the thoracic skeleton.
Most cases arise from mutations in the gene for EFNB1.[1][2][3]
References
- ^ Wieland I, Weidner C, Ciccone R, et al. (December 2007). "Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome". Clin. Genet. 72 (6): 506–16. doi:10.1111/j.1399-0004.2007.00905.x. PMID 17941886. http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2007&volume=72&issue=6&spage=506.
- ^ Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO (Jun 2004). "Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome". Proc Natl Acad Sci U S A 101 (23): 8652–7. doi:10.1073/pnas.0402819101. PMC 423250. PMID 15166289. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=423250.
- ^ Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P (Jun 2004). "Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome". Am J Hum Genet 74 (6): 1209–15. PMC 1182084. PMID 15124102. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1182084.
External links
- Craniofrontonasal dysplasia at NIH's Office of Rare Diseases
- Craniofrontonasal dysplasiaTeebi type at NIH's Office of Rare Diseases
Cytokine Ephrin Craniofrontonasal syndromeWNT Tetra-amelia syndromeTGF Fas ligand Endothelin Other DHH (DHH XY gonadal dysgenesis) · BMP15 (Premature ovarian failure 4) · TSHB (Congenital hypothyroidism 4)Categories:- Extracellular ligand disorders
- Genetic disorder stubs
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