Synonyms: Albright hereditary osteodystrophy type 3 | Albright hereditary osteodystrophy-like syndrome | Brachydactyly-intellectual disability syndrome | Del(2)(q37) | Deletion 2q37 | Monosomy 2q37qter
A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability brachymetaphalangy of digits 3-5 short stature obesity hypotonia specific facial dysmorphism abnormal behavior autism or autism spectrum disorder joint hypermobility/dislocation and scoliosis.
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
2q37 microdeletion 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
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.