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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

Preferred term

Weill-Marchesani Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Related concepts

Entry terms

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

Allowable Qualifier(s)

In other languages

  • Syndrome de Weill-Marchesani

    French

  • 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

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RDF/XML TURTLE JSON-LD Created 7/6/09, last modified 6/23/15