Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
Definition
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 — per MONDO