Synonyms: Microcephalic primordial dwarfism, Alazami type
A rare form of primordial dwarfism often microcephalic characterized by short stature global developmental delay variable intellectual disability and recognizable dysmorphic facial features (triangular face prominent forehead deeply set eyes low-set ears wide nose malar hypoplasia wide mouth thick lips and widely spaced teeth).
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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Alazami 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
For a list of clinical trials in this disease area, please click here.