Deletion 20p

Deletion of the short arm of chromosome 20 causes growth delay and characteristisc facial features including a low and flat nasal bridge, maxillary hypoplasia, long philtrum, thin upper lip, small mandible, low-set ears, and a high-arched palate. Additional manifestations include upper airway obstruction, digital anomalies, and cardiac malformations. Ophthalmic features include epicanthus, hypertelorism, downward slanting of the palpebral fissures, strabismus, colobomata of the irides, and the anterior segment features of the Rieger or Alagille syndromes.10,325

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