Distal 17p13.1 microdeletion syndrome Q93.5

Distal 17p13.1 microdeletion syndrome is a rare chromosomal abnormality syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-legged gait, and posture with knee and elbow flexion and hands held in the midline.

Prevalence: <1 / 1 000 000

1. Zeesman S et al (2012) Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability. Am J Med Genet A 58A:1832-1836.