Occurring in >95% |
Severe global developmental delay |
Absent/severe speech delay |
Hypotonia |
Normal/accelerated growth |
Occurring in >75% |
Long eye lashes |
Prominent, dysplastic ears |
Relatively large, fleshy hands |
Hypoplastic/dysplastic toenails |
Decreases sensitivity to pain |
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 |
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 |
Occurring in <25% |
Hearing loss (~20%) |
Arachnoid cyst (~15%) |
Cellulitis (~10%) |
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%) |