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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
ICD-O -
OMIM
UMLS
  • C1859782
MeSH
  • C536371
MedDRA -

Summary

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974.


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