Rubinstein-Taybi syndrome and differential diagnosis [23 genes]

Rubinstein-Taybi syndrome is a polymalformation syndrome characterized by mental retardation, postnatal growth retardation, microcephaly, broad thumbs, and dysmorphic facial features, among other possible findings. The facial phenotype is characteristic, with arched eyebrows, long eyelashes, downward-sloping palpebral fissures, wide nasal bridge, peaked nose, high-arched palate, micrognathia, and a characteristic smile.

Rubinstein-Taybi syndrome: 1 / 100,000 – 125,000 (ORPHA:783).

The Rubinstein-Taybi and differential diagnosis service is recommended as it is the most cost-efficient approach to studying the two genes involved in the phenotype when there is at least moderate suspicion of the disease. It also allows the gene analysis associated with the differential diagnosis.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention or early detection of associated comorbidities, some of them with potentially life-threatening consequences.

The Rubinstein-Taybi and differential diagnosis service is considered clinically indicated when there is at least moderate clinical suspicion that the patient suffers from this disease.

The analysis of the CREBBP and EP300 genes makes it possible to identify the molecular cause in up to 70% of patients with the syndrome.