The CHOPS Syndrome is a rare disorder affecting multiple organs.

Chromosome: 5q31.1

Gene: AFF4 (AF4/FMR2 family member 4)


Inheritance: autosomal dominant


Key features ("CHOPS"):

(1) cognitive impairment (C): intellectual disability, developmental delay

(2) coarse facial features (C): round face, synophrys, short nose, hypertelorism with proptosis, down-turned corners of the mouth, long eyelashes

(3) heart defects (H): patent ductus arteriosus, VSD

(4) obesity (O)

(5) pulmonary involvement (P): obstructive sleep apnea, aspiration pneumonia

(6) short stature (S)

(7) skeletal abnormalities (S): brachydactyly, abnormal vertebrae


Other findings may include:

(1) microcephaly

(2) hearing loss

(3) cataract

(4) horseshoe kidney

(5) cryptorchidism in males

(6) optic atrophy

(7) GERD

(8) laryngomalacia

(9) thick hair

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