D2I2.
genetic

Rubinstein–Taybi syndrome

Rubinstein–Taybi (RTS) is a rare condition characterized by short , 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 or deletion in the CREBBP gene, located on 16, and/or the EP300 gene, located on chromosome 22.

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Causes — why it happens

  • · or deletion in the CREBBP gene, located on 16, and/or the EP300 gene, located on chromosome 22.
Plain-language summary adapted from Wikipedia. Not medical advice.