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Weill-Marchesani syndrome

Orpha number ORPHA3449
Synonym(s) Spherophakia - brachymorphia
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS
  • C0265313
MeSH
  • D056846
MedDRA
  • 10064963
SNOMED CT
  • 205801004
  • 2884008

Summary

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. The prevalence is not documented. Short stature (usually below the third percentile) and brachydactyly are present in 98% of patients. The following frequencies of ophthalmological manifestations are observed: myopia 94%, microspherophakia 84%, ectopia lentis 73%, glaucoma 80%, and cataract 23%. Other features include joint limitations, muscular build, thickened skin, and cardiac abnormalities (pulmonary valve stenosis, mitral valve insufficiency, aortic valve stenosis, ductus arteriosus, and ventricular septal defect). Intellectual deficit has been reported in 13% of cases and is always mild. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described. The AR mode of inheritance appears to be more frequent and homozygous mutations within the ADAMST10 gene (19p13.3-p13.2) have been found. ADAMTS10 is a member of the extracellular matrix protease family and is expressed in skin, fetal chondrocytes, and fetal and adult hearts. Electron microscopy and immunological studies of skin fibroblasts from WMS patients suggest that the syndrome is associated with impairment of the extracellular matrix. Heterozygous mutations within the FBN1 gene (15q21.1) have been identified in patients and are transmitted in an AD manner, giving another example of the large clinical expressivity of fibrillin-1. Clinical homogeneity has been demonstrated despite the genetic heterogeneity in AR and AD families. However, this leads to difficulties in genetic counseling of sporadic cases. Some heterozygotes for AR WMS present with some mild clinical manifestations of the disease, such as brachydactyly. Prenatal diagnosis has never been reported. Prognosis is good. Patients should be followed for ophthalmologic complications in particular, and physiotherapy can be proposed for joint stiffness.

Expert reviewer(s)

  • Pr Laurence FAIVRE-OLIVIER

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Detailed information

Clinical genetics review
  • EN (2013)
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