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Ellis–van Creveld syndrome : ウィキペディア英語版 | Ellis–van Creveld syndrome
Ellis–van Creveld Syndrome (also called ''chondroectodermal dysplasia'' or ''mesoectodermal dysplasia'' but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type. ==Symptoms==
It involves numerous anomalies including: * Post-axial polydactyly * Congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals) * Teeth present at birth (natal teeth)〔(【引用サイトリンク】url=http://www.nlm.nih.gov/medlineplus/ency/article/003268.htm )〕〔(【引用サイトリンク】url=http://www.nlm.nih.gov/medlineplus/ency/article/001667.htm )〕 * Fingernail dysplasia〔 * Short-limbed dwarfism, mesomelic pattern〔 * Short ribs * Cleft palate * Malformation of the wrist bones (fusion of the hamate and capitate bones).
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「Ellis–van Creveld syndrome」の詳細全文を読む
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