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Rubinstein-Taybi syndrome
Upper chest keloids; note the facial dymorphic features and charcteristic grimace (RSTS-patient1)
Keywords: Atypical smile, Autosomal dominant disorder, Bulky erythematous scars, Chest, Child, Dental anomalies, Face, Fibroproliferative nodules, Keloid scars, Male, Multiple congenital anomaly syndrome
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome (RTS) or broad thumb-hallux syndrome is a rare genetic condition usually caused by mutations of the CREBBP or EP300 genes.
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Source: dermnetnz.org
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