Diseases

Weill-Marchesani Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Classification

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MeSH Record

Synonyms

22 entry terms
  • Congenital Mesodermal Dysmorphodystrophy
  • Marchesani Syndrome
  • Marchesani-Weill Syndrome
  • Mesodermal Dysmorphodystrophy, Congenital
  • Spherophakia Brachymorphia Syndrome
  • Spherophakia-Brachymorphia Syndrome
  • Weill Marchesani Syndrome
  • Congenital Mesodermal Dysmorphodystrophies
  • Dysmorphodystrophies, Congenital Mesodermal
  • Dysmorphodystrophy, Congenital Mesodermal
  • Marchesani Weill Syndrome
  • Marchesani-Weill Syndromes
  • Mesodermal Dysmorphodystrophies, Congenital
  • Spherophakia Brachymorphia Syndromes
  • Syndrome, Spherophakia Brachymorphia
  • Syndromes, Spherophakia Brachymorphia
  • GEMSS
  • Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
  • Weill-Marchesani Syndrome, Autosomal Dominant
  • Weill-Marchesani Syndrome, Autosomal Recessive
  • Weill Marchesani Syndrome, Autosomal Dominant
  • Weill Marchesani Syndrome, Autosomal Recessive

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Weill-Marchesani Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D056846. http://id.nlm.nih.gov/mesh/2026/D056846
  2. Weill-Marchesani Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Weill%E2%80%93Marchesani_syndrome
  3. Weill-Marchesani Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q3961695