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Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly (a misshapen forehead due to premature fusion of bones in the skull). People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state.〔(【引用サイトリンク】url=http://ghr.nlm.nih.gov/glossary=hypertelorism )〕 It is suggested that it is from a X-linked transmission.〔(【引用サイトリンク】url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2986&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3369&Disease%28s%29/group%20of%20diseases=Say-Meyer-syndrome&title=Say-Meyer-syndrome&search=Disease_Search_Simple )〕 == Signs and Symptoms == Common signs of Say–Meyer syndrome are trigonocephaly as well as head and neck symptoms. The head and neck symptoms come in the form of craniosynostosis affecting the metopic suture (the dense connective tissue structure that divides the two halves of the skull in children which usually fuse together by the age of six). Symptoms of Say–Meyer syndrome other than developmental delay and short stature include *Intellectual disability. *Low-set ears/posteriorly rotated ears *Intellectual deficit as well as learning disability *Intrauterine growth retardation (poor growth of a baby while it is in the mother's womb) *Posterior fontanel *Premature synostosis of the lambdoid suture (the fusion of the bones to the joint is premature) *Narrow forehead *Trigonocephaly (a frontal bone anomaly that is characterized by a premature fusion of the bones which gives the forehead a triangular shape) *Hypotelorism or hypertelorism (reduced or increased width between the eyes) *Craniosynostosis (when one or more seam-like junctions between two bones fuses by turning into bone. This changes the growth pattern of the skull)〔(【引用サイトリンク】url=http://ghr.nlm.nih.gov/glossary=hypertelorism )〕 *Low birth weight and height〔(【引用サイトリンク】url=http://www.ncbi.nlm.nih.gov/pubmed/9730664 )〕 The affected patients sometimes show a highly arched palate, clinodactyly (a defect in which toes or fingers are positioned abnormally) and ventricular septal defect (a heart defect that allows blood to pass directly from left to the right ventricle which is caused by an opening in the septum). Overall, Say–Meyer syndrome impairs growth, motor function, and mental state.〔(【引用サイトリンク】url=http://www.naturalcurefor.com/treatments/say-meyer-syndrome )〕 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「Say–Meyer syndrome」の詳細全文を読む スポンサード リンク
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