|
Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1).〔〔 Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.〔〔 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.〔〔〔〔 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.〔 == Epidemiology == Craniofrontonasal dysplasia is a very rare genetic condition. As such there is little information and no consensus in the published literature regarding the epidemiological statistics. The incidence values that were reported ranged from 1:100,000 to 1:120,000.〔http://www.headlines.org.uk/medical_leaflets/HL18_Craniofrontonasal_Syndrome.pdf〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「craniofrontonasal dysplasia」の詳細全文を読む スポンサード リンク
|