Synonyms: Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome | TMBTS
A rare genetic multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability epilepsy hypoplasia/aplasia of the nails of the thumb and great toe and facial dysmorphism.
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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Temple-Baraitser syndrome?
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Advocacy Organizations
Cure KCNH1 Foundation
Cure KCNH1 Foundation is a patient advocacy organization dedicated to raising awareness about KCNH1 genetic disorders and improving the lives of children and families by advancing research in the search for better treatment options and a cure.
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.