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
