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Arthrogryposis with oculomotor limitation and electroretinal anomalies

Synonym(s) Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
Prevalence Unknown
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Neonatal
  • Q68.8
  • C1834523
  • C1862472
MeSH -
MedDRA -


Disease definition

Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

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