Rudiger syndrome

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Template:Infobox medical condition (new) Rudiger syndrome is a congenital disorder characterized by the association of severe growth retardation with abnormalities of the extremities, urogenital abnormalities and facial abnormalities.[1] It has been described in a family where an affected brother and sister died as infants.[2] Both autosomal recessive and autosomal dominant inheritance have been suggested with the disorder.[1][3]

The features ectrodactyly, ectodermal dysplasia and cleft palate have been described with Rudiger syndrome, giving it the rarely used designation "EEC syndrome".[3] However, this is not to be confused with the formal EEC syndrome associated with chromosome 7.[4]

It was characterized in 1971.[5]

References

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  1. ↑ a b Script error: No such module "citation/CS1".
  2. ↑ Online Mendelian Inheritance in Man (OMIM): 268650
  3. ↑ a b Script error: No such module "Citation/CS1".
  4. ↑ Online Mendelian Inheritance in Man (OMIM): 129900
  5. ↑ Script error: No such module "Citation/CS1".

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External links

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