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Arthrogryposis with oculomotor limitation and electroretinal anomalies

Orpha number ORPHA1154
Synonym(s) Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
Prevalence Unknown
Inheritance
  • Autosomal recessive
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q74.3
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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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