Chromosome 17p13.1 deletion syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly 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-based gait and a body posture with knee and elbow flexion and hands held in a midline.

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Last updated: 5/1/2018

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