disease has basis in dysfunction of CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. CREBBP Rubinstein-Taybi syndrome ICD10:Q87.2 MONDO:0008393 NCIT:C153290 OMIM:180849 Orphanet:353277 RSTS RSTS1 Rubinstein syndrome Rubinstein-Taybi syndrome 1 Rubinstein-Taybi syndrome caused by mutation in CREBBP Rubinstein-Taybi syndrome type 1 broad thumb-hallux syndrome broad thumbs and great toes, characteristic facies, and intellectual disability broad thumbs and great toes, characteristic facies, and mental retardation Rubinstein-Taybi syndrome