Synonyms: Hypothalamic hamartoblastoma syndrome
Pallister-Hall syndrome (PHS) a pleiotropic autosomal dominant malformative disorder is characterized by hypothalamic hamartoma pituitary dysfunction bifid epiglottis polydactyly and more rarely renal abnormalities and genitourinary malformations.
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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Pallister-Hall 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.
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.