KBG syndrome

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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 March 2024

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KBG syndrome?

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Clinical Trials

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