x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

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.

ORPHA:1154

  • 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
  • ICD-10: Q68.8
  • OMIM: 108145
  • UMLS: C1834523  C1862472
  • MeSH: -
  • GARD: 4047
  • MedDRA: -

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.