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Okamoto syndrome

ORPHA2729
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.


Last update: March 2006

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