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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Cleidocranial Dysplasia
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Cleidocranial Dysplasia
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Cleidocranial Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Cleidocranial Dysplasia

Preferred term

Cleidocranial Dysplasia  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Cleidocranial Digital Dysostoses
  • Cleidocranial Digital Dysostosis
  • Cleidocranial Dysostoses
  • Cleidocranial Dysostosis
  • Dysostoses, Cleidocranial
  • Dysostoses, Cleidocranial Digital
  • Dysostosis, Cleidocranial
  • Dysostosis, Cleidocranial Digital
  • Marie Sainton Syndrome
  • Marie-Sainton Syndrome
  • Scheuthauer Marie Sainton Syndrome
  • Scheuthauer-Marie-Sainton Syndrome
  • Syndrome, Marie-Sainton
  • Syndrome, Scheuthauer-Marie-Sainton

Scope note

  • Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

History note

  • 85; was CLEIDOCRANIAL DYSOSTOSIS 1963-84

In other languages

URI

http://www.yso.fi/onto/mesh/D002973

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