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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0001064
MESH:C537974
OMIM:211930
Orphanet:1321
MONDO:0008900
High level summary of knowledge for a disease, including descriptions and datasource references.