CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus. Distinctive features include down slanting palpebral fissures, a high nasal bridge, a high arched palate, micrognathia, and short stature. Patients also have behavior problems, including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. CK syndrome is caused by mutations in NSDHL, a gene that encodes an enzyme in the cholesterol biosynthesis pathway.
カテゴリ
先天奇形
階層分類
ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
多発性の発達異常または症候群
LD2F 多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
H01917 CK 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
脂質･糖脂質代謝
nt06034 コレステロールの生合成
H01917 CK 症候群
du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF
タイトル
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
