FaCD Online Syndrome Fact Sheet

Last updated: 05 Aug 2008

Name: Rubinstein-Taybi syndrome

Synonym: Broad Thumb-Hallux syndrome

Mode of Inheritance: AD

Genes

CBP/CREBBP, mapped to 16p13.3
EP300, mapped to 22q13

Tumor features

astrocytoma
glioma of the brain
medulloblastoma
meningioma
neuroblastoma, adrenal
neuroblastoma, extra-adrenal
oligodendroglioma
pilomatrixoma
pineal gland tumor

Tumor features (possible)

adrenal adenoma
leiomyosarcoma
leukemia, acute lymphoblastic (ALL)
leukemia, acute myeloid (AML, incl. ANLL)
nasopharyngeal rhabdomyosarcoma
non-Hodgkin lymphoma
odontoma, maxillar
pheochromocytoma
schwannoma (neurilemmoma), peripheral nerve
seminoma

Non-tumor features

bone, frequent fractures of
cryptorchism
developmental delay/mental deficiency/mental retardation
fingers, fetal pads on
heart, congenital defect
hypospadia
keloid
lip, pouting lower
lip, short upper-
micrognathia
nasal bridge, broad
nose, beaked
palate, high arched
palpebral fissures, downward slanting
shawl scrotum
short stature
strabismus
thumbs, broad
toes, broad

Comment

Typical features are: short stature, broad thumbs, persistent fetal pads on fingers, broad toes (halluces), mental retardation, congenital heart defect, down-slanting palpebral fissures, broad nasal bridge, beaked nose with nasal septum below alae, short upper lip, pouting lower lip, mild micrognathia, shawl scrotum, frequent fractures and keloid. [6,8]

Patients with Rubinstein-Taybi syndrome (RTS) have an increased risk of brain tumors, neural crest cell-derived tumors and of tumors arising in other developmental defects[1,4,8-11]. Approximately 5 % of RTS patients develop a malignancy or a benign tumor ‘of interest’ (e.g. pilomatrixoma, derived from the hair matrix [2,3,5]). Other incidental tumors have been reported as well including leukemia, lymphoma and gonadal tumors[1,7].

Links

Rubinstein Taybi Syndrome UK Support Group 24 1 08

References

[1] Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 1995; 56:112-115.
[2] Masuno M, Imaizumi K, Ishii T, Kuroki Y, Baba N, Tanaka Y. Pilomatrixomas in Rubinstein-Taybi syndrome. Am J Med Genet 1998; 77:81-82.
[3] Cambiaghi S, Ermacora E, Brusasco A, Canzi L, Caputo R. Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report. Pediatr Dermatol 1994; 11(1):21-25.
[4] Verstegen MJ, van den Munckhof P, Troost D, Bouma GJ. Multiple meningiomas in a patient with Rubinstein-Taybi syndrome. Case report. Journal of neurosurgery 2005; 102(1):167-8.
[5] Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. Multiple perforating and non perforating pilomatricomas in a patient with Churg-Strauss syndrome and Rubinstein-Taybi syndrome. Journal of the European Academy of Dermatology and Venereology : JEADV 2004; 18(5):607-10.
[6] Roelfsema JH, Peters DJ. Rubinstein-Taybi syndrome: clinical and molecular overview. Expert reviews in molecular medicine 2007; 9(23):1-16.
[7] Kurosawa K, Fukutani K, Masuno M, Kawame H, Ochiai Y. Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome. Pediatrics international 2002; 44(3):330-2.
[8] Hennekam RC. Rubinstein-Taybi syndrome. European journal of human genetics : EJHG 2006; 14(9):981-5.
[9] Ihara K, Kuromaru R, Takemoto M, Hara T. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. American journal of medical genetics 1999; 83(5):365-6.
[10] Burton BJ, Kumar VG, Bradford R. Granular cell tumour of the spinal cord in a patient with Rubenstein-Taybi syndrome. British journal of neurosurgery 1997; 11(3):257-9.
[11] Skousen GJ, Wardinsky T, Chenaille P. Medulloblastoma in patient with Rubinstein-Taybi syndrome. American journal of medical genetics 1996; 66(3):367.