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camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0008900:  camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
GARD:0001064: 
MESH:C537974: 
Orphanet:1321: