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Table 1 Clinical characteristics of deletion 22q13 syndrome

From: Deletion 22q13.3 syndrome

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%)