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Spondylocamptodactyly syndrome

MedGen UID:
325510
•Concept ID:
C1838781
•
Disease or Syndrome
Synonyms: Camptodactyly with cervical platyspondyly; Spondylo camptodactyly syndrome; Spondylocamptodactyly
 
Monarch Initiative: MONDO:0010801
OMIM®: 600000
Orphanet: ORPHA3180

Definition

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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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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