Synonyms: Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
A rare congenital malformation syndrome characterized by a typical facial dysmorphism macrodontia of the permanent upper central incisors short stature skeletal anomalies developmental delay and behavioral abnormalities.
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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KBG syndrome?
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Advocacy Organizations
KBG Foundation
The KBG Foundation is a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG syndrome.
KBG Syndrome Association
To further the cause of KBG Syndrome by spreading awareness, providing information on upcoming research or potential studies with firsthand updates as well as connecting families and organizations. We seek to enhance the lives of all those living with KBG Syndrome as we know first hand the challenges that may come living with KBG Syndrome.
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.