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Ellis–van Creveld syndrome
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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)
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