Weill-Marchesani Syndrome 4

Alternative Names

  • WMS4
  • Weill-Marchesani-Like Syndrome
  • WMSL
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

OMIM Number

613195

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q26.3

Description

Weill-Marchesani-like syndrome is a rare congenital disorder characterized by spherophakia, myopia, ectopia lentis, glaucoma and short stature.  Affected patients usually have shallow anterior chambers, peripheral iris synechiae and an axial length between 21 to 23 mm.  As the name suggests, this disorder is similar to Weill-Marchesani syndrome (WMS) in its ocular symptoms.  However, patients do not suffer from the brachydactyly or joint stiffness usually seen in WMS. 

Weill-Marchesani-like syndrome is caused by mutations in the ADAMTS17 gene. ADAMTS17 belongs to the ADAMTS family of proteins which are involved in several biological processes such as connective tissue structure, cancer, angiogenesis and cell migration. While the specific function of ADAMTS17 is unknown, it has been speculated to play a role in the crystalline lens zonular formation or maintenance. ADAMTS17 mutations in Weill-Marchesani-like syndrome are usually inherited in autosomal recessive manner; however, sporadic mutations have also been reported.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613195.1.1Saudi ArabiaFemaleYesYes Short stature; Abnormality of the eyeNM_139057.3:c.652delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
613195.1.2Saudi ArabiaMaleYesYes Short stature; Abnormality of the eyeNM_139057.3:c.652delHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Brother of 613195.1....

Other Reports

Saudi Arabia

Khan et al. (2012) analyzed two siblings presenting with short stature and spherophakia.  The patients, a 22-year-old female and a 16-year-old male, were born to healthy consanguineous Saudi Arab parents and had nine other unaffected siblings.  The female patient was 137.8 cm tall and weighed 48 kg while the male sibling was 136.9 cm tall and weighed 36 kg.  On examination, both patients showed signs of significant spherophakia.  The female patient had shallow anterior chambers and frequent peripheral anterior iris attachments.  Axial length was 21.48 mm in the right eye and 21.29 mm in the left eye.  Her best corrected visual acuity in either eye was 20/25.  The male patient had moderate anterior chamber depth and rare peripheral iris processes.  Axial length was found to be 24.12 mm in the right eye and 24.10 mm in the left eye.  His visual acuity was 20/30.  Apart from their short stature and need for glasses, the patients did not show any other symptoms.  Genetic testing unveiled a novel homozygous mutation in the ADAMTS17 gene of both affected patients. 

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