Craniofacial/skeletal
| | | | | | | | | |
Brachycephaly | 89 | 3/3 | 1/2 | + | + | + | + | 8/9 | 89 |
Midface hypoplasia | 93 | 0/3 | 2/2 | + | + | + | + | 6/9 | 67 |
Prognathism (relative to age) | 52 | 3/3 | 1/2 | + | + | N | N | 6/7 | 86 |
Tented upper lip | 73 | 3/3 | 2/2 | + | + | − | + | 8/9 | 89 |
Broad, square face | 81 | 2/3 | 2/2 | + | + | + | + | 8/9 | 89 |
Synophrys | 62 | 2/3 | N | − | + | − | − | 3/7 | 43 |
Cleft lip/palate | 9 | 0/3 | 0/2 | − | − | − | − | 0/9 | 0 |
Brachydactyly | 85 | 1/3 | 2/2 | + | + | + | + | 7/9 | 78 |
Short stature (<5th centile) | 69 | 0/3 | 0/2 | − | − | + | − | 1/9 | 11 |
Scoliosis† | 49–67 | 2/3 | 2/2 | N | − | − | − | 4/8 | 50 |
Otolaryngologic abnormalities
| | | | | | | | | |
Chronic ear infections | 85 | 2/3 | 1/2 | + | − | − | − | 4/9 | 44 |
Hearing loss | 68 | 1/3 | 0/2 | − | − | − | − | 1/9 | 11 |
Hoarse, deep voice | 80 | 2/3 | N | + | + | + | + | 6/7 | 86 |
Neurological/behavioural
| | | | | | | | | |
Variable mental retardation | 100 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
Speech delay† | >90 | 1/3 | N | + | − | + | + | 4/7 | 57 |
Motor delay† | >90 | 1/3 | N | + | + | + | − | 4/7 | 57 |
Hypotonia | >90 | 1/3 | N | + | − | + | + | 4/7 | 57 |
Seizures by history | 11 to 30 | 1/3 | 0/2 | − | − | − | + | 2/9 | 22 |
Sleep disturbance | 70 to 100 | 3/3 | 2/2 | + | + | + | + | 7/7 | 100 |
Self hugging/hand wringing‡ | 70 to 100 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
Attention seeking | 80 to 100 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
Self injurious behaviours‡ | 78 to 96 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
Onychotillomania | 25 to 85 | 3/3 | N | + | + | − | + | 6/7 | 86 |
Polyembolokoilomania | 25 to 85 | 3/3 | N | + | + | + | + | 7/7 | 100 |
Head banging/face slapping | 71 | 2/3 | N | − | + | + | + | 5/7 | 72 |
Hand biting/self biting | 77 | 2/3 | N | − | + | + | + | 5/7 | 72 |
Ocular abnormalities
| | | | | | | | | |
Myopia | 53 | 2/3 | 1/2 | + | + | + | − | 6/9 | 67 |
Strabismus | 50 | 2/3 | 1/2 | − | + | − | − | 4/9 | 44 |
Iris abnormalities | 64 | 0/3 | 0/2 | − | − | + | − | 1/9 | 11 |
Other features
| | | | | | | | | |
Raised cholesterol | >50 | 3/3 | 0/2 | − | N | + | − | 4/8 | 50 |
Structural cardiovascular anomaly | 30 | 0/3 | 0/2 | − | − | − | − | 0/9 | 0 |
Structural renal anomaly | 30 | 0/3 | 0/2 | − | − | − | − | 0/9 | 0 |
Sex | | | | Female | Male | Male | Female | | |
Age at evaluation (years) | | | | 14 to 19 | 4 to 14 | 14 to 17 | 11 | | |