Synonyms: Broad thumb-hallux syndrome | Broad thumbs-halluces syndrome
A rare genetic malformation syndrome characterized by congenital anomalies (microcephaly specific facial characteristics and broad thumbs and halluces) short stature intellectual disability and behavioral characteristics.
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
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Rubinstein-Taybi syndrome?
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Advocacy Organizations
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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.