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Skin and Connective Tissue Diseases > Connective Tissue Diseases > Weill-Marchesani Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > 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
Endocrine System Diseases > Dwarfism > 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

Preferred term

Weill-Marchesani Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Scope note

  • 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.

History note

  • 2010

In other languages

URI

http://www.yso.fi/onto/mesh/D056846

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