Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Terme préférentiel
Cleidocranial Dysplasia
Type
-
mesh:Descriptor
Définition
- 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.
Concept générique
Synonyme(s)
- Cleidocranial Digital Dysostosis
- Cleidocranial Dysostosis
- Dysostosis, Cleidocranial
- Marie-Sainton Syndrome
- Scheuthauer-Marie-Sainton Syndrome
Qualificatif(s) autorisé(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
Traductions
-
français
-
Dysplasie cléido-crânienne
-
Hydrocéphalie héréditaire
-
Syndrome de Pierre Marie et Sainton
-
Syndrome de Scheuthauer
-
Syndrome de Scheuthauer-Marie-Sainton
URI
http://data.loterre.fr/ark:/67375/JVR-CCB3QFVH-T
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