A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay moderate to severe intellectual disability dysmorphic features including craniosynostosis micro-/retrognathia cleft palate and brachydactyly and short stature. Seizures skeletal anomalies (such as arthrogryposis gracile bones and pathological fractures) and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.
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
Craniosynostosis-microretrognathia-severe intellectual disability syndrome?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
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 Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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.