RTS is a multisystem disorder. CREBBPis associated with RTS type 1 (RTS1).
The typical clinical presentation of RTS1 includes:
• Developmental delay and intellectual disability (ID):
Highly variable with intelligence quotient (IQ) ranging from 25 to 79.
• Typical facial dysmorphism:
Individuals with RTS1 have facial characteristics that are typical for RTS1, for example arched eyebrows, long eyelashes, and a broad nose with a low hanging nasal septum. The jaw can be small and the palate can be high and arched.
• Distal limb and skeletal abnormalities:
Abnormalities of the extremities are usually one of the most characteristic phenotypic elements to evoke the diagnosis
• Growth retardation
• Hypertrichosis
• Maternal preeclampsia
Other less frequently reported clinical features are:
• Cardiac anomalies
• Non-specific EEG abnormalities
• Brain malformations
• Dental abnormalities
• Ocular abnormalities
• Feeding problems
• Urinary tract anomalies
• Keloid and hypertrophic scars
CREBBP