GTR Home > Conditions/Phenotypes > Arthrogryposis multiplex congenita distal type 1

Summary

The distal arthrogryposes are a group of disorders that mainly involve the distal parts of the limbs. They are characterized by congenital contractures of 2 or more different body areas without a primary neurologic or muscle disease. The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009). Genetic Heterogeneity of Distal Arthrogryposes Distal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B (614335), caused by mutation in the MYBPC1 gene (160794) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, 193700), caused by mutation in the MYH3 gene (160720) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, 601680), caused by mutation in MYH3, the TNNT3 gene (600692) on chromosome 11p15.5, the TNNI2 gene (191043), also on 11p15.5, or TPM2 (190990) on chromosome 9p13; DA3 (Gordon syndrome, 114300) and DA5 (108145), caused by mutation in the PIEZO2 gene (613629) on chromosome 18p11; DA4 (609128); DA5D (615065), caused by mutation in the ECEL1 gene (605896) on chromosome 2q36; DA6 (108200); DA7 (158300), caused by mutation in the MYH8 gene (160741) on chromosome 17p13.1; DA8 (178110); DA9 (121050), caused by mutation in the FBN2 gene (612570) on chromosome 5q23-q31; and DA10 (187370), which maps to chromosome 2q. See 277720 for discussion of a possible autosomal recessive form of DA2A. See 208155 for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle. [from OMIM]

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Associated genes

Clinical features

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  • Hand clenching
  • Adducted thumb
  • Decreased hip abduction
  • Talipes equinovarus
  • Rocker bottom foot
  • Absent distal interphalangeal creases
  • Single transverse palmar crease
  • Cryptorchidism
  • Trismus
  • Abnormality of the thorax
  • Ulnar deviation of the hand or of fingers of the hand
  • Congenital hip dislocation
  • Calcaneovalgus deformity
  • Scoliosis
  • Elbow flexion contracture
  • Hip contracture
  • Knee flexion contracture
  • Joint contracture of the hand
  • Stiff shoulders
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