Rudiger syndrome | |
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Rudiger syndrome is inherited in an autosomal recessive manner |
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]
Rudiger syndrome | |
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Rudiger syndrome is inherited in an autosomal recessive manner |
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]