Rubinstein-Taybi Syndrome

A malformation syndrome characterised by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.¹ It was first described in 1963 by Rubinstein and Taybi.²

• Incidence is about 1 case per 100,000 live births.³
• Most cases of are sporadic, although the syndrome has been reported in monozygotic twins.⁴

• Facial abnormalities: hypoplastic maxilla with narrow palate, prominent beaked nose, antimongoloid eye slant, low-set/malformed ears, strabismus.
• Digital abnormalities: broad thumbs, fingers and great toes.
• Abnormalities of growth and development: severe mental retardation, sleep apnoea, speech difficulties, hypotonia, growth retardation.
• Skeletal abnormalities: patellar dislocation.
• Skin: hirsutism, capillary nevus of the forehead.
• Cardiovascular abnormalities, including ventricular septal defects, patent ductus arteriosus.⁵
• Ocular abnormalities occur in the majority of patients. The abnormalities are diverse but include retinal dysfunction, which has been reported to occur in 78% of patients.⁶
• Cryptorchidism in males.
• Mood disorders and obsessive-compulsive disorder.
• Recurrent respiratory tract infections.⁷

Other similar syndromes to consider in the diagnosis are faciodigitogenital syndrome, Greig syndrome, Larsen syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, Simpson-Golabi-Behmel syndrome and Weaver syndrome.

• The investigations will depend on the clinical manifestations of the patient.
• Skeletal deformities may require CT and MRI scans as well as x-rays.
• Cardiac assessment, including echocardiography, for congenital heart disease.
• Eye and vision assessment for ocular abnormalities.
• Ear, nose and throat, and hearing assessment.

• The wide spectrum of clinical manifestations requires disease management tailored to the problems of each patient.
• Physiotherapy, speech therapy and special education are all required.
• Families of affected children need a great deal of support and all management intervention must be carefully coordinated and periodically reviewed.

• The survival rate is good, with frequent reports of survival to adulthood.
• Affected children suffer from developmental delay, growth retardation and feeding difficulties.
• Respiratory tract infections and complications from congenital heart disease are primary causes of morbidity and mortality in infancy.¹