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Rubinstein-Taybi syndrome

Monday 22 November 2004

Rubinstein-Taybi syndrome is an autosomal dominant syndrome characterized by mental retardation, broad thumbs and toes, and facial abnormalities.

Synopsis

- systemic anomalies

  • postnatal growth retardation

- carniofacila anomalies

- talon cusps
- patent ductus arteriosus
- atrial septal defects
- ventricular septal defects
- capillary hemangiomas
- sternal anomalies
- accessory spleens (10573006)
- hypoplastic left heart (10573006)
- abnormal pulmonary lobulation (10573006)

- genitourinary anomalies

- skeletal anomalies

  • delayed skeletal maturation
  • large foramen magnum
  • parietal foramina
  • scoliosis Spina bifida occulta
  • small, flared iliac wings
  • patellar dislocation
  • broad thumbs with radial angulation
  • fifth finger clinodactyly
  • persistent fetal fingertip pads
  • syndactyly
  • polydactyly
  • broad great toes
  • plantar crease between first and second toes
  • pes planus
  • single transverse palmar creases

-  cutaneous anomalies

  • keloid formation in surgical scars
  • capillary hemangiomas
  • cafe-au-lait spots
  • multiple pilomatricomas (pilomatricomatosis)

- hirsutism
- agenesis of corpus callosum

- predisposition to tumors (head and neck ++)

  • keloid formation in surgical scars
  • capillary hemangiomas
  • cafe-au-lait spots
  • multiple pilomatricomas (pilomatricomatosis)

Cytogenetics

- 16p13.3 chromosomal anomalies

  • 10% of submicroscopic deletions of 16p13.3 detectable by FISH
  • 16p13.3 translocations
  • 16p13.3 inversions

Etiology

- mutation in the gene CREBBP encoding the transcriptional coactivator CREB-binding protein (MIM.600140) at 16p13.3

  • truncating mutations in CREBBP in 10% of patients

- mutation in the gene EP300 (MIM.602700) at 22q13 encoding 300-kD E1A-binding protein (EP300)

See also

- 16p13.3 deletion syndrome (MIM.610543)