CK syndrome

[MIM 300 831]

X-linked recessive transmission of mutations of the NSDHL gene (Xq28) causing abnormal cholesterol biosynthesis (3β-hydroxysteroiderol dehydrogenase) and hypocholesterolemia.


Association of:

-         moderate to severe mental retardation ; often microcephaly with cortical malformations and seizures in boys

-         facial dysmorphism: almond-shaped eyes , epicanthus, high arched palate, retrognathia

-         long and thin fingers and toes 

-         behavioral disorders: hyperactivity, aggressiveness.


Sometimes: kyphoscoliosis.


Anesthetic implications: 

mental retardation, epilepsy, risk of difficult intubation.


References : 

-        du Souich C, Raymond FL, Grzeschick KH et al. 
NSDHL-related disorders. 
Gene Reviews Feb 16, 2012.


Updated: October 2019