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Clinical characteristics of deletion 22q13 syndrome |
| Occurring in >95% |
| Severe global developmental delay |
| Absent/severe speech delay |
| Hypotonia |
| Normal/accelerated growth |
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| Occurring in >75% |
| Long eye lashes |
| Prominent, dysplastic ears |
| Relatively large, fleshy hands |
| Hypoplastic/dysplastic toenails |
| Decreases sensitivity to pain |
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| Occurring in >50% |
| Dolicocephaly |
| Full brow |
| Prominent/dysplastic ears |
| Full/puffy cheeks |
| Full/puffy eyelids |
| Pointed chin |
| Deep set eyes |
| Ptosis |
| Decreased perspiration/tendency to overheat |
| Flat midface |
| Wide nasal bridge |
| Bulbous nose |
| Sacral dimple |
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| Occurring in >25% |
| Cyclic vomiting |
| Strabismus |
| Epicanthal folds |
| Wide spaced teeth/malocclusion |
| 2–3 syndactyly of the toes |
| Fifth finger clinodactyly |
| Seizures |
| Lymphedema |
| Gastroesophageal reflux |
| Renal abnormalities |
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| Occurring in <25% |
| Hearing loss (~20%) |
| Arachnoid cyst (~15%) |
| Cellulitis (~10%) |
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| Behavioral features |
| Poor eye contact |
| Stereotypic movements |
| Decreased socialization |
| Language impairment |
| Chewing/mouthing of non-food items (80–90%) |
| Teeth grinding (about 25%) |
| Tongue thrusting (about 15%) |
| Aggressive behavior (10–15%) |
Phelan Orphanet Journal of Rare Diseases 2008 3:14 doi:10.1186/1750-1172-3-14 |