The earliest signs and symptoms occur in newborns and consist of hypotonia, but show up in youth as developmental delays, low muscle tone, learning disabilities, being overweight, autism-like symptoms, seizures, eczema, asthma, chest and ear infections, and abnormalities in face, hands, and feet such as brachydactyly. Autism-like symptoms consist of odd obsessions, repetitive behavior, poor use of eye contact, impaired speech, poor understanding of others’ emotions, idiosyncratic use of words or phrases. People with this disorder also tend to have a characteristic appearance, including prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae. Heart, brain, gastrointestinal, and kidney problems such as Wilms tumor, and hernias, spinal curvatures, osteopenia, hearing and sight difficulties can also occur.
2q37 deletion syndrome
13q deletion syndrome
22q13 deletion syndrome
9q34 deletion syndrome
22q11.2 distal deletion syndrome
1q21.1 deletion syndrome
1p36 deletion syndrome
22q11.2 duplication syndrome