Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.

Also known as: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia, camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia

0 clinical trials for this condition and its sub-types, 0 tagged with Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia itself.