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last update : 30-05-2018
Symbol SHHS2
Location 9p13.3
Name Sheldon-Hall syndrome 2
Other name(s)
  • Arthrogryposis, distal, type 2B
  • Freeman-Sheldon syndrome variant
  • Corresponding gene TPM2
    Other symbol(s) DA2B, FSSV
    Main clinical features
  • distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth; disorder of primary limb malformation without primary neurologic or muscle disease
  • affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth, associated to ulnar deviation, camptodactyly, overlapping fingers and scoliosis from birth
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease