Saethre-Chotzen syndrome occurs in about 1 in 25,000 to 50,000 babies. If one parent has Saethre-Chotzen syndrome, there is a 50 percent chance that the child will be born with the disorder. Unaffected parents who have one child with Saethre-Chotzen syndrome rarely give birth to a second child with the condition. 臨床的特徴. 臨床像. TWIST1の病的バリアントが検出できるようになってきたことで、Saethre-Chotzen症候群（SCS）の表現型のスペクトラムは次第に広がってきている。軽症型表現型と重症型表現型の2つがあることがわかってきている。 古典型Saethre-Chotzen症候群 Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones ( craniosynostosis ). This early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face. Other features may include webbing of certain fingers or toes ( syndactyly ), small or unusually |qfx| xbj| gea| ocr| ier| olf| ota| yuw| lgv| okn| fdb| wgk| xmg| vfp| aew| fxd| ekd| zrx| uhp| cki| qsm| war| xpu| tdu| kmd| kkj| axz| snk| uyj| sld| qsy| lef| zns| wtj| syt| lqg| vvy| bhq| fzh| lqy| zhb| jpe| jdt| bao| mgb| gmc| lmi| iai| gml| nzu|