Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease

Congenital contractural arachnodactyly (CCA syndrome) is an autosomal dominant connective tissue disease which must be distinguished in particular from Marfans' syndrome and the heterogeneous arthrogryposis multiplex congenita. The principal symptoms are multiple congenital contractures with a quite pronounced tendency to regression, scoliosis, dolichostenomelia and arachnodactyly, and malformation of the auricles. The authors report on a young woman (the proposita) and her son, who are typically affected. Observation of the course in these two patients confirms the rule that the condition has a relatively favorable prognosis. The mother of the proposita suffered from dolichostenomelia and arachnodactyly, while congenital contractures and dysmorphous auricles were absent; this could represent a--still hypothetical--mild form of the syndrome. The symptomatology, differential diagnosis, treatment and genetics of the CCA syndrome are discussed in detail with reference to a further 33 cases in the literature.