TABLE 1
FROM:
Smith–Magenis syndrome
Sarah H Elsea and Santhosh Girirajan
BACK TO ARTICLETable 1. Summary of SMS clinical features
| Clinical features | 17p11.2 deletion (%) | RAI1 mutation (%) |
|---|---|---|
| Craniofacial/skeletal | ||
| Brachycephaly | >90 | 81.8 |
| Midface hypoplasia | >90 | 72.7 |
| Prognathism (relative to age) | >50 | 88.8 |
| Tented upper lip | 70–90 | 91.6 |
| Broad, square face | >80 | 90.9 |
| Synophrys | 30–65 | 33.3 |
| Cleft lip/palate | 0–10 | 0 |
| Brachydactyly | >80 | 83.3 |
| Short stature | >70 | 9 |
| Scoliosis | 40–70 | 36.3 |
| Otolaryngologic abnormalities | ||
| Chronic ear infections | 80–90 | 54.5 |
| Hearing loss | 60–70 | 10 |
| Hoarse, deep voice | >80 | 100 |
| Neurological/behavioral | ||
| Variable mental retardation | 100 | 100 |
| Speech delay | >90 | 70 |
| Motor delay | >90 | 70 |
| Hypotonia | >90 | 61 |
| Seizures by history | 11–30 | 16.6 |
| Sleep disturbance | >90 | 100 |
| Self hugging/hand wringing | 50–80 | 100 |
| Attention seeking | 80–100 | 100 |
| Self-injurious behaviors | 70–90 | 100 |
| Onychotillomania | 25–85 | 100 |
| Polyembolokoilamania | 25–85 | 80 |
| Head banging/face slapping | 70 | 90 |
| Hand-biting/self-biting | 80 | 60 |
| Ocular abnormalities | ||
| Myopia | 50–60 | 60 |
| Strabismus | 50–80 | 40 |
| Other features | ||
| Cardiovascular abnormalities | 30–40 | 0 |
| Renal/urinary tract abnormality | 15–30 | 0 |
| Obesity | 13 | 66.7 |
| Dental anomalies | >90 | NA |
a Percentages are compiled from previously published data.4, 5, 6, 7, 8, 9, 10, 11, 12, 13
