Searching map area
Rubinstein–Taybi syndrome
? TBD
Rare genetic condition
Join to rate
Join to rate

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...

Instance of
designated intractable/rare disease
Rare disease
class of disease
Subclass of
autosomal dominant disease
Syndrome
Disease
Wikidata