- Rubinstein-Taybi syndrome (RTS) is characterized cutaneously by a predilection for keloids, CALM, nevus flammeus, unusual dermatoglyphic patterns, and dermatophytosis.
- Patients typically have broad thumbs and toes.
- Systemic manifestations include cryptorchidism, microcephaly, retarded growth, mental retardation (nearly 100%), and a characteristic facies (e.g., prominent forehead, hypertelorism, broad nasal bridge, thick eyebrows, micrognathia, and microstomy).
- Cardia, ocular, and urinary tract abnormalities may occur.
- Most cases are sporadic, but occasionally, familial cases or incomplete forms have been described.
- A microdeletion at chromosome 16p13.3 and mutations in the CREBBP or p300 gene is helpful in diagnosis.
- There is a tendency to develop brain tumors (e.g., meningioma) and leukemia before the age of 15.
Arch Med Sci. 2015 Mar 16; 11(1): 232–234
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