Rudiger syndrome explained
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. Both autosomal recessive and autosomal dominant inheritance have been suggested with the disorder.[1]
The features ectrodactyly, ectodermal dysplasia and cleft palate have been described with Rudiger syndrome, giving it the rarely used designation "EEC syndrome".[2] However, this is not to be confused with the formal EEC syndrome associated with chromosome 7.
It was characterized in 1971.[3]
Notes and References
- Web site: Orphanet: Rudiger syndrome . August 2, 2010.
- Schnitzler . L. . Schubert . B. . Larget-Piet . L. . Berthelot . J. . Cleirens . S. . Taviaux . D. . 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. Feb 1978 . 677688.
- Rüdiger RA, Schmidt W, Loose DA, Passarge E . 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 . December 1971 . 5132310 . 10.1016/S0022-3476(71)80193-2.
