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Osteoporosis-oculocutaneous-hypopigmentation syndrome

Orpha number ORPHA2786
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) Hernandez-Fragoso syndrome
Oochs syndrome

Summary

This syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. *Author: Orphanet (May 2006)*.

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