Three patients resembling Teebi-Shaltout syndrome

Am J Med Genet A. 2013 Oct;161A(10):2570-5. doi: 10.1002/ajmg.a.36082. Epub 2013 Aug 5.


Teebi-Shaltout syndrome (TSS) was first reported by Teebi and Shaltout in 1989. This entity is proposed to be inherited in autosomal recessive manner. The clinical features include characteristic facial features, ectodermal dysplasia, camptodactyly, and caudal appendage. Only one additional paper reporting four additional cases has been published since the first description. Clinical features common to all previously affected individuals diagnosed with TSS are craniofacial, orodental-ectodermal, and skeletal. This report summarizes and discusses the findings of three additional patients from two unrelated families with findings similar to TSS. These findings may be present in a genetically and phenotypically heterogeneous group of disorders similar to TSS. Presence of consanguinity and similarly affected siblings of both genders suggests autosomal recessive inheritance.

Keywords: Teebi-Shaltout syndrome; camptodactyly; caudal appendage; ectodermal dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Child
  • Coccyx / abnormalities*
  • Consanguinity
  • Craniofacial Abnormalities / diagnosis*
  • Facies
  • Female
  • Hair / abnormalities*
  • Humans
  • Male
  • Phenotype

Supplementary concepts

  • Teebi Shaltout syndrome