Synonyms: Distal del(17)(p13.1)
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Distal 17p13.1 microdeletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.