KBG syndrome is 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.

KBG syndrome  has just been updated on Orphanet (ORPHA / 2332) – september 2020 – and revised by Pr Nicole PHILIP and Dr. Florence RICCARDI for ERN ITHACA.

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