Chromosome 17p13.1 deletion syndrome
Alternate names
17p13.1 deletion syndrome; Distal 17p13.1 microdeletion syndrome; Distal Del(17)(p13.1)
Definition
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.
NIH genetic and rare disease info
Chromosome 17p13.1 deletion syndrome is a rare disease.
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