Findings in the almost all of patients (> 90%):
(1) brachycephaly
(2) midface hypoplasia
(3) variable mental retardation
(4) speech delay
(5) motor delay
(6) hypotonia
(7) sleep disturbance
(8) attention seeking
(9) dental anomalies
Findings in most patients (> 50%):
(1) prognathism
(2) tented upper lip
(3) broad, square face
(4) brachydactyly
(5) short stature
(6) scoliosis
(7) chronic ear infections
(8) hearing loss
(9) voice that is deep and/or hoarse
(10) self hugging and/or hand wringing
(11) self-injurious behaviors
(12) head banging or face slapping
(13) self-biting or hand-biting
(14) myopia
(15) strabismus
Findings in some patients:
(1) snyophrys (eyebrows that grow together)
(2) seizures
(3) onychotillomania
(4) polyembolokoilamania (habit of putting foreign objects into the ear or other body orifices)
(5) cardiovascular anomalies
(6) renal or urinary tract abnormalities
Occasional findings:
(1) cleft palate and/or lip
(8) obesity
