Synonyms: Dup(X)(p22) | Dup(X)(p22.13p22.2) | Duplication Xp22
A rare syndromic intellectual disability characterized by developmental delay and intellectual disability learning and behavioral problems short stature thin and sparse hair mild dysmorphic features tapering fingers and later onset of scoliosis obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.
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
Xp22.13p22.2 duplication syndrome?
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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
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Clinical Trials
For a list of clinical trials in this disease area, please click here.