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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Langer-Giedion Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Langer-Giedion Syndrome

Terme préférentiel

Langer-Giedion Syndrome  

Type

  • mesh:Descriptor

Définition

  • Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).

Concept générique

Synonyme(s)

  • Acrodysplasia V
  • Giedion-Langer Syndrome
  • Trichorhinophalangeal Syndrome Type 2
  • Tricho-Rhino-Phalangeal Syndrome Type II
  • Trichorhinophalangeal Syndrome Type II
  • Trichorhinophalangeal Syndrome, Type II
  • Trichorhinophalangeal Syndrome with Exostoses
  • TRPSII

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome de Langer-Giedion

    français

  • Acrodysplasie V
  • Dysplasie tricho-rhino-phalangienne de type 2
  • Dysplasie tricho-rhino-phalangienne de type II
  • Syndrome tricho-rhino-phalangien avec exostoses
  • Syndrome tricho-rhino-phalangien de type 2
  • Syndrome tricho-rhino-phalangien de type II

URI

http://data.loterre.fr/ark:/67375/JVR-PFJ2ZXMK-T

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RDF/XML TURTLE JSON-LD Date de création 15/05/1989, dernière modification le 08/07/2013