A patient with KPS Syndrome may have a number of skeletal and developmental findings.
Developmental findings:
(1) cognitive deficits and/or developmental delay
(2) delayed bone age
(3) short stature
Skeletal findings:
(1) abnormal ribs
(2) abnormal vertebrae
(3) short tubular bones of the hands
(4) brachy-clinodactyly of the fifth finger
(5) syndactyly of second and third toes
(6) abnormal spine curvature
(7) hip dysplasia and/or short femoral necks
(8) sternum abnormalities
Other findings:
(1) congenital heart defects
(2) abnormal EEG
