Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

Am J Med Genet. 1998 Feb 26;76(1):93-8. doi: 10.1002/(sici)1096-8628(19980226)76:1<93::aid-ajmg17>;2-k.


We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less dramatic than those described in distal arthrogryposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). Affected individuals have vertical talus, ulnar deviation, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, downslanting palpebral fissures, small mouth, and a prominent chin. A gene for DA2B maps to chromosome 11p15.5. We suggest that DA2B is partly responsible for the clinical variability observed in Freeman-Sheldon syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adult
  • Arthrogryposis / classification*
  • Arthrogryposis / genetics
  • Arthrogryposis / pathology*
  • Child
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology
  • Female
  • Genes, Dominant
  • Humans
  • Infant
  • Male
  • Pedigree
  • Phenotype
  • Syndrome