17q23.1q23.2 microdeletion syndrome
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 2024
Newly diagnosed with
17q23.1q23.2 microdeletion syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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
Clinical Trials
For a list of clinical trials in this disease area, please click here.