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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%)