A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit characteristic facial morphology and problems of abnormal and irregular breathing.
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
Pitt-Hopkins 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.
The Chromosome 18 Registry & Research Society
To help individuals with chromosome 18 conditions overcome the obstacles they face so they may lead health and productive lives.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.