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

Epidemiology

• 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

Presentation

• 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

Differential diagnosis

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.

Investigations

• 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.

Management

• 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.

Prognosis

• 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

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Document references

1. Mijuskovic ZP; Rubinstein-Taybi Syndrome. eMedicine, September 2006.
2. Rubinstein JH, Taybi H; Broad thumbs and toes and facial abnormalities. Am J Dis Child 1963; 105: 588-608.
3. Roelfsema JH, Peters DJ; Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med. 2007 Aug 20;9(23):1-16. [abstract]
4. Baraitser M, Preece MA; The Rubinstein-Taybi syndrome: occurrence in two sets of identical twins. Clin Genet. 1983 Apr;23(4):318-20.
5. Stevens CA, Bhakta MG; Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet. 1995 Nov 20;59(3):346-8. [abstract]
6. van Genderen MM, Kinds GF, Riemslag FC, et al; Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol. 2000 Oct;84(10):1177-84. [abstract]
7. Naimi DR, Munoz J, Rubinstein J, et al; Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc. 2006 May-Jun;27(3):281-4. [abstract]

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Internet and further reading

• Rubinstein-Taybi Syndrome, Medline Plus
• Rubinstein-Taybi syndrome, Online Mendelian inheritance in Man (OMIM)
• Rubinstein-Taybi Syndrome UK Support Group

Acknowledgements EMIS is grateful to Dr Colin Tidy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2008.


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