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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01917 CK syndrome
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06034 Cholesterol biosynthesis
H01917 CK syndrome
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
Title
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
