Rudiger syndrome

Rudiger syndrome
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]