Findings in the almost all of patients (> 90%):
(1) voice that is deep and/or hoarse (100%)
(2) variable mental retardation (100%)
(3) sleep disturbance (100%)
(4) self hugging and/or hand wringing (100%)
(5) self-injurious behaviors (100%)
(6) attention seeking (100%)
(7) onychotillomania (100%)
(8) tented upper lip
(9) broad, square face
Findings in most patients (> 50%):
(1) brachycephaly
(2) midface hypoplasia
(3) prognathism
(4) brachydactyly
(5) chronic ear infections
(6) obesity
(7) myopia
(8) self-biting or hand-biting
(9) head banging or face slapping
(10) speech delay
(11) motor delay
(12) hypotonia
(13) polyembolokoilamania (habit of putting foreign objects into the ear or other body orifices)
Findings in some patients:
(1) snyophrys (eyebrows that grow together)
(2) scoliosis
(3) strabismus
(4) seizures
Occasional findings:
(1) short stature
(2) hearing loss
