KBG syndrome
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 October 2023.
Newly diagnosed with
KBG syndrome?
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Advocacy Organizations
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.
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
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.