camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
http://purl.obolibrary.org/obo/MONDO_0008900
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. [ Orphanet:1321 ]
Term info
- OMIM:211930 (Orphanet:1321)
- GARD:0001064 (MONDO:equivalentTo)
- Orphanet:1321 (OMIM:211930)
- MESH:C537974 (Orphanet:1321)
ordo_malformation_syndrome
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.
https://omim.org/entry/211930, http://purl.obolibrary.org/obo/Orphanet_1321, http://identifiers.org/mesh/C537974
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
MONDO:0008900