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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessWeill-Marchesani syndrome 1-4, differential diagnosis

Summary

Short information

Four curated single gene sequence analyses according to the clinical suspicion Weill-Marchesani syndrome 1-4 plus 7 additional curated genes for comprehensive differential diagnostic purposes

ID
WP7749
Number of genes
11 Accredited laboratory test
Examined sequence length
20,7 kb (Core-/Core-canditate-Genes)
38,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ADAMTS103312AR
ADAMTS173288AR
FBN18616AD
LTBP25466AR
AASS2781AR
ADAMTSL22856AR
ADAMTSL43225AR
CBS1656AR
LTBP33912AD, AR
SMAD41659AD
SUOX1638AR

Informations about the disease

Clinical Comment

Weill-Marchesani syndrome is a hereditary disease of the connective tissue with lens anomalies, dwarfism, brachydactyly and stiff joints. Other eye problems such as microspherophakia, myopia, ectopia lentis are evident in childhood, and glaucoma can later lead to blindness. Adult men remain partly clearly under 170 cm body length, women (partly clearly) under 160 cm. The syndrome is inherited autosomal recessively (with complete penetrance) or autosomal dominant. Penetrance in dominant inheritance is incomplete, lowest for brachydactyly and gonioscopy with significantly varying expressivity. Mutations are most frequently found in the ADAMTS10 gene, very rarely in the ADAMTS17, LTBP5 or FBN1 genes. No concrete statements can be made on the diagnostic yield, especially since Marfan syndrome and metabolic diseases, among others, show overlapping symptoms.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1114/

 

Synonyms
  • Short stature, microspherophakia +/- megalocornea, ectopia lent., +/- 2. glaucoma, brachydaktyly
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Dental anomalies + short stature (LTBP3)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: Glaucoma 3, primary congenital, D (LTBP2)
  • Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Allelic: MASS syndrome (FBN1)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Marfan syndrome (FBN1)
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Polyposis, juvenile intestinal (SMAD4)
  • Allelic: Stiff skin syndrome (FBN1)
  • Ectopia lentis et pupillae (ADAMTSL4)
  • Ectopia lentis, isolated, AR (ADAMTSL4)
  • Geleophysic dysplasia (LTBP3)
  • Geleophysic dysplasia 1 (ADAMTSL2)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Hyperlysinemia (AASS)
  • Microspherophakia +/- megalocornea, with ectopia lentis + with/-out secondary glaucoma (LTBP2)
  • Myhre syndrome (SMAD4)
  • Sulfite oxidase deficiency (SUOX)
  • Weill-Marchesani syndrome 1, AR (ADAMTS10)
  • Weill-Marchesani syndrome 2, AD (FBN1)
  • Weill-Marchesani syndrome 3, AR (LTBP2)
  • Weill-Marchesani syndrome 4, AR (ADAMTS17)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined