KBG syndrome

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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 July 2024

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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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.