What are distal arthrogryposes?

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Answer

Distal arthrogryposes

These involve the distal joints and include the following types and subtypes (all have autosomal dominant inheritance with reduced penetrance and variable expressivity) [14] :

  • Type I (Distotarlar dysmorphism) - Adducted thumbs, ulnar deviation of metacarpophalangeal (MP) joints, normal facies

  • Type IIA (Freeman-Sheldon syndrome, whistling face syndrome, craniocarpal tarsal dystrophy, windmill hand) - Distinctive facies, flexion and ulnar deviation of the fingers

  • Type IIB - Distinctive facies, flexion and ulnar deviation of the fingers, vertical talus

  • Type III (Gordon syndrome) - Cleft palate, finger contractures, clubfoot

  • Type IV - Scoliosis, finger contractures

  • Type V - Limited ocular motility, ptosis, finger contractures

  • Type VI - Sensorineural hearing loss, finger contractures

  • Type VII (trismus-pseudocamptylodactyly syndrome, Hecht syndrome) - Inability to fully open mouth, facultative camptodactyly

  • Type VIII (Dominant pterygium syndrome) - Multiple pterygium, finger contractures

  • Type IX (congenital contractual arachnodactyly, Beals syndrome) - Ear deformity, finger contractures


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