Skip to main content

Rubinstein-Taybi syndrome

  • Reference work entry
  • 22 Accesses

Part of the A to Z Essentials book series (ATOZ)

Synonym(s)

Rubinstein syndrome; broad thumb-hallux syndrome

Definition

Genetic multisystem disorder characterized by broad thumbs and great toes, characteristic facies, and mental retardation

Pathogenesis

Possible autosomal dominant inheritance in some families; gene on the short arm (p) of chromosome 16 (16p13.3); may be caused by point mutation or deletion in gene involved in regulation of CREB binding protein

Clinical manifestation

Skin changes: one or capillary hemangiomas or nevus flammeus lesions on forehead, neck nape, and/or back; cafe au lait spots; keloid formation; hypertrichosis; ingrown finger- or toenails.

Systemic changes: growth retardation; delayed bone age; mental retardation; craniofacial dysmorphism (including hypertelorism, broad nasal bridge, and “beak-shaped” nose); abnormally broad thumbs and great toes; breathing and swallowing difficulties; malformations of the heart, kidneys, urogenital system, and/or skeletal system

Differential diagnosis

Saethre-Chotzen synd...

This is a preview of subscription content, access via your institution.

References

Download references

Editor information

Editors and Affiliations

Rights and permissions

Reprints and Permissions

Copyright information

© 2004 Springer-Verlag

About this entry

Cite this entry

(2004). Rubinstein-Taybi syndrome. In: Levine, N., Levine, C.C. (eds) Dermatology Therapy. A to Z Essentials. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-29668-9_2375

Download citation

  • DOI: https://doi.org/10.1007/3-540-29668-9_2375

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-00864-4

  • Online ISBN: 978-3-540-29668-3

  • eBook Packages: Springer Book Archive