1p36 Deletion Syndrome - Characteristics

Characteristics

The facial features of 1p36 deletion syndrome have been considered to be characteristic, although few patients have been diagnosed solely on the basis of facial appearance. These features may include microcephaly, small, possibly slanted, deep-set eyes, a flat nose and nasal bridge, anomalous, low-set and small ears, a small mouth with down-turned corners and a pointed chin. Distinguishing features in another study were a large or late-closing anterior fontanelle (up to 85% of patients) and facial asymmetry.