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]
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[edit | edit source]
- ↑ 1.0 1.1 "Orphanet: Rudiger syndrome". Retrieved August 2, 2010.
- ↑ Online Mendelian Inheritance in Man (OMIM) 268650
- ↑ 3.0 3.1
- ↑ Online Mendelian Inheritance in Man (OMIM) 129900
- ↑
External links[edit | edit source]
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