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Spondylocamptodactyly syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Camptodactyly with cervical platyspondyly; Spondylo camptodactyly syndrome; Spondylocamptodactyly
Monarch Initiative: MONDO:0010801
OMIM®: 600000
Orphanet: ORPHA3180


Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondylocamptodactyly syndrome
Follow this link to review classifications for Spondylocamptodactyly syndrome in Orphanet.

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