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Aniridia - renal agenesis - psychomotor retardation

Orpha number ORPHA1064
Synonym(s) Sommer-Rathbun-Battles syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.8
OMIM
UMLS
  • C1859782
MeSH
  • C536371
MedDRA -
SNOMED CT -

Summary

In two distinct families sibs were reported with the association of partial aniridia, congenital glaucoma, telecanthus, frontal bossing, unilateral renal agenesis and mental retardation. The parents were not related, but an autosomal recessive mode of inheritance is likely. Searches for abnormality in chromosome 11p13 might be worthwhile in light of the deletion found in cases of the WAGR syndrome (Wilms tumor-Aniridia-Genitourinary anomalies -mental Retardation).

Expert reviewer(s)

  • Dr Emmanuelle PROUST-LEMOINE

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