Temple-Baraitser syndrome: a rare and possibly unrecognized condition

Am J Med Genet A. 2010 Sep;152A(9):2322-6. doi: 10.1002/ajmg.a.33574.

Abstract

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Adult
  • Child
  • Family
  • Female
  • Humans
  • Infant
  • Inheritance Patterns*
  • Intellectual Disability*
  • Male
  • Middle Aged
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics
  • Thumb / abnormalities*
  • Toes / abnormalities*