Weill-Marchesani Syndrome, Autosomal Recessive

Alternative Names

  • WM Syndrome
  • WMS
  • Spherophakia-Brachymorphia Syndrome
  • Mesodermal Dysmorphodystrophy, Congenital
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

277600

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19p13.2

Description

Weill-Marchesani syndrome (WMS) is a rare genetic disorder that is characterized by short stature, unusually short fingers (brachydactyly), joint stiffness, facial abnormalities, and eye abnormalities. 

Homozygous mutations within the ADAMST10 gene (a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 gene) are found to be the cause of AR-WMS. ADAMTS10 plays a major role in human growth and the development of skin, lens, and heart.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
277600.1.1LebanonMaleYesYes Short stature; Brachydactyly; Micros...NM_030957.3:c.709C>THomozygousAutosomal, RecessiveDagoneau et al. 2004 Sibling of 277600.1....
277600.1.2LebanonFemaleYesYes Short stature; Brachydactyly; Microsph...NM_030957.3:c.709C>THomozygousAutosomal, RecessiveDagoneau et al. 2004 Sibling of 277600.1....
277600.1.3LebanonMaleYesYes Short stature; Brachydactyly; Micros...NM_030957.3:c.709C>THomozygousAutosomal, RecessiveDagoneau et al. 2004 First degree cousin ...

Other Reports

Lebanon
Megarbane et al. (2000) studied three cases with Weill-Marchesani Syndrome (WMS) . Haplotype analysis excluded  the 15q15-21 region in this family. Faivre et al (2002) linked the disease gene in this family to chromosome 19p13.3-p13.2. 
Saudi Arabia
Faivre et al (2002) linked the disease gene in a Saudi family with Weill-Marchesani Syndrome to chromosome 19p13.3-p13.2. 

 

© CAGS 2024. All rights reserved.