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Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia

Orpha number ORPHA1321
Synonym(s) Goodman camptodactyly
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.2
OMIM
UMLS
  • C1859357
MeSH
  • C537287
  • C537974
MedDRA -
SNOMED CT
  • 70410008

Summary

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


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