Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability variable hand abnormalities (including brachydactyly cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures bulbous nasal tip thin upper and lower vermilion and broad pointed chin. Other features including obesity microcephaly short stature and a grimacing smile may be observed.
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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Intellectual disability-facial dysmorphism-hand anomalies 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.
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Clinical Trials
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