[MIM 616 368]

Acronym for: Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, skeletal dysplasia.

(Cognitive deficit-coarse facial features-cardiac malformation-obesity-pulmonary involvement-short stature, syndrome)

Prevalence < 1/106. Sporadic cases or autosomal recessive transmission of a mutation of the AFF4 gene (5q31.1).

Association of:

-        cognitive deficit

-        facial dysmorphism: rounded face, hypertelorism with proptosis, thick eyebrows (synophrys) and hair, long eyelashes, short nose

-        cardiac malformation: ductus arteriosus, VSD

-        frequent pneumonia, obstructive sleep apnea

-        brachydactyly and vertebral abnormalities

-        short stature (< P3 for age) but overweight or obesity

Sometimes: cataract, renal abnormalities (vesicoureteral reflux, horseshoe kidney), hearing loss

Anesthetic implications:

check cardiac status, short stature, mental retardation

References:        

-        Raible SE, Mehta D, Bettale C, Fiordaliso S et al.
Clinical and molecular spectrum of CHOPS syndrome.
Am J Med Genet 2019 ; 179 :1126-38.

Updated: July 2021