RubinsteinTaybi

Rubinstein-Taybi syndrome, sometimes written without a hyphen as RubinsteinTaybi, is a rare congenital genetic disorder characterized by distinctive facial features, broad thumbs and toes, and varying degrees of growth and intellectual disability. The facial appearance often includes arched eyebrows, downslanting palpebral fissures, a broad nasal bridge, a beaked nasal tip, and a long philtrum. Other common findings include short stature, dental anomalies, and various congenital anomalies.

Genetically, Rubinstein-Taybi syndrome is caused by loss-of-function mutations or deletions affecting CREBBP (on chromosome 16p13.3) or EP300 (on chromosome 22q13). CREBBP and EP300 encode histone acetyltransferases that regulate transcription. Most cases arise de novo, with autosomal dominant inheritance accounting for a minority of occurrences; parental transmission is possible but uncommon.

Clinical features are variable but often include developmental delay or intellectual disability, learning difficulties, and feeding problems in infancy. Individuals may have congenital heart defects, vision or hearing issues, skeletal and limb anomalies such as broad thumbs and halluces, and dental imperfections. Some face growth delays, airway problems, and an increased risk for certain medical conditions; regular multidisciplinary monitoring helps address needs as they arise.

Diagnosis relies on a combination of clinical assessment and genetic testing to identify mutations or deletions in CREBBP or EP300. Management is collaborative, involving developmental pediatrics, speech and physical therapy, cardiology, dental care, and educational planning. The prognosis varies with the extent of associated anomalies and access to supportive interventions. Rubinstein-Taybi syndrome was first described by Rubinstein and Taybi in 1963.