Rudiger syndrome

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]

Rudiger syndrome
Rudiger syndrome is inherited in an autosomal recessive manner

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
  1. "Orphanet: Rudiger syndrome". Retrieved August 2, 2010.
  2. Online Mendelian Inheritance in Man (OMIM) 268650
  3. Schnitzler, L.; Schubert, B.; Larget-Piet, L.; Berthelot, J.; Cleirens, S.; Taviaux, D. (Feb 1978). "Rudiger (E. E. C.) syndrome: report of a case associated with atopic dermatitis (author's transl)". Annales de dermatologie et de vénéréologie. 105 (2): 201–206. PMID 677688.
  4. Online Mendelian Inheritance in Man (OMIM) 129900
  5. Rüdiger RA, Schmidt W, Loose DA, Passarge E (December 1971). "Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome". J. Pediatr. 79 (6): 977–81. doi:10.1016/S0022-3476(71)80193-2. PMID 5132310.
Classification
External resources


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