What causes Rubinstein-Taybi syndrome and which findings distinguish it?
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What causes Rubinstein-Taybi syndrome and which findings distinguish it?
Pathogenic variants in CREBBP or EP300 cause an autosomal dominant disorder, usually de novo. Broad thumbs and great toes, short stature, characteristic facial features, and developmental disability are typical clues. Cardiac and renal anomalies, feeding problems, reflux, hearing or visual issues, sleep apnea, and joint laxity may occur.