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| Marshall syndrome ： ウィキペディア英語版 |
Marshall syndrome
Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, some say they are the same.
== Genetics ==
Stickler syndrome and Marshall syndrome have an autosomal dominant pattern of inheritance. However, there is a great deal of variation within and among families with regard to gene expression. Some may be more severely affected and others may be very mildly affected. Often these syndromes are not recognized in a family until a baby is born with Pierre Robin syndrome or some members have detached retinas or cataracts at a young age.
Both syndromes where correlated with mutations in the COL11A1 gene.
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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