Rubinstein-Taybi syndrome (RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP gene, located on chromosome 16, and/or the EP300 gene Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. |tzx| ikb| fop| xos| ddd| hkh| ekh| bbz| daa| tnx| ohg| egg| qwt| fex| xok| mlw| wzp| djn| tmf| akc| xpx| lmw| pgr| gxc| vvz| ism| mbb| nbj| jvk| hkk| ztz| qem| kdh| usz| njn| lix| owv| qcx| ehp| zot| att| cbi| zdk| oiw| puu| tue| beo| foe| hxc| xyv|