Synonyms: Del(17)(q23.1q23.2) | Monosomy 17q23.1q23.2
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay microcephaly short stature heart defects and limb abnormalities.
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
17q23.1q23.2 microdeletion syndrome?
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Advocacy Organizations
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
TBX4Life
TBX4Life promotes a cure for the diseases caused by mutations in TBX4 Gene (TBX4 Syndrome). Its mission includes: Advocate for those affected by TBX4 Syndrome; Enable access for patients to all relevant information; Sponsor, host, participate in activities that promote efforts to cure TBX4-associated diseases; Consolidate disease-relevant data from patients to foster research for TBX4
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Clinical Trials
For a list of clinical trials in this disease area, please click here.