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Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome

Disease 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.

ORPHA:1321

  • Synonym(s):
    • Goodman camptodactyly
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.2
  • OMIM: 211930
  • UMLS: C1859357
  • MeSH: C537287  C537974
  • GARD: 1064
  • MedDRA: -

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