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Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

MedGen UID:
395240
Concept ID:
C1859357
Disease or Syndrome
Synonym: Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
 
Monarch Initiative: MONDO:0008900
OMIM®: 211930
Orphanet: ORPHA1321

Definition

An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCamptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

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