Only 21 patients with<unk> -16.1 microdeletion have been described as of 2013. The clinical similarities between the individuals resulted in the classification of a new genetic syndrome. The shared clinical features include moderate to severe intellectual disability and similar facial features including telecanthus, drooping eyelids, downslanting, short palpebral fissures, a prominent nasal bridge, high palate with long, smooth philtrum and an everted lower lip. Some of the patients also had feeding problems in infancy, microcephaly, optic nerve hypoplasia and hydronephrosis, wide-spaced nipples, short stature, cortical dysplasia, camptodactyly and pigeon toe.
2p15-16.1 microdeletion syndrome
1p36 deletion syndrome
17q12 microdeletion syndrome
22q11.2 distal deletion syndrome
2q37 deletion syndrome
1q21.1 deletion syndrome
13q deletion syndrome
3q29 microdeletion syndrome