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RHYNS syndrome

Synonym(s) Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset -
ICD-10 -
  • C1865794
  • C537612
MedDRA -


Disease definition

RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.


So far, it has been described in four males.

Genetic counseling

Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.

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