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Acro-renal-ocular syndrome

Orpha number ORPHA959
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Acrorenoocular syndrome is characterized by the association of acral, ocular and renal defects. It has been described in less than 20 families, containing several affected individuals over consecutive generations. The acral anomalies are defects of the radial ray varying from mild hypoplasia of the distal part of the thumb with limitation of motion at the interphalangeal joint to severe thumb hypoplasia and preaxial polydactyly (thumb duplication), sometimes associated with syndactyly of fingers. Renal anomalies vary from mild malrotation to crossed renal ectopia with partial horseshoe anomaly. Other urinary tract anomalies include vesicoureteral reflux and bladder diverticula. Ocular features include coloboma of the optic nerve, ptosis, and/or Duane anomaly (congenital strabism with limitation of horizontal eye movements, globe retraction and narrowing of the palpebral fissure on attempted adduction). Sensorineural hearing loss was described in some patients, leading to the suggestion that Okihiro syndrome (Duane syndrome with radial ray abnormalities and deafness) and acrorenoocular syndrome may be the same entity. The acrorenoocular syndrome is inherited as an autosomal dominant condition and a mutation in the SALL4 gene (a gene identified in patients with Duane anomaly) was found in one of the reported families. In this case, the patient had Duane anomaly in addition to the limb and renal changes (i.e. Okihiro syndrome).


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Detailed information

Clinical genetics review
  • EN (2008)
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