Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Weill-Marchesani Syndrome
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Weill-Marchesani Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Weill-Marchesani Syndrome
Eye Diseases > Eye Diseases, Hereditary > Weill-Marchesani Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Dwarfism > Weill-Marchesani Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Weill-Marchesani Syndrome
Endocrine System Diseases > Dwarfism > Weill-Marchesani Syndrome

Terme préférentiel

Weill-Marchesani Syndrome  

Type

  • mesh:Descriptor

Définition

  • Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations. The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations.

Concept générique

Concepts associés

Synonyme(s)

  • Congenital Mesodermal Dysmorphodystrophy
  • Marchesani Syndrome
  • Marchesani-Weill Syndrome
  • Mesodermal Dysmorphodystrophy, Congenital
  • Spherophakia Brachymorphia Syndrome
  • Spherophakia-Brachymorphia Syndrome
  • Weill Marchesani Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome de Weill-Marchesani

    français

  • Dysmorphodystrophie mésodermique congénitale
  • SWM (Syndrome de Weill-Marchesani)
  • Syndrome de brachymorphie-sphérophakie
  • Syndrome de Marchesani

URI

http://data.loterre.fr/ark:/67375/JVR-K4LKB9DG-W

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 23/06/2015