Weill-Marchesani-Like Syndrome

Clinical Characteristics
Ocular Features: 

Several families have been reported in which the ocular features were similar to Weill-Marchesani syndromes WMS1 and WMS2 but lacked most of the skeletal features.  The ocular abnormalities included: myopia, ectopia lentis, spherophakia, and glaucoma.  Shallow anterior chambers and peripheral iris synechiae are often present. Axial length ranges from 21 to 23 mm.

Systemic Features: 

Short stature is a feature of this syndrome but brachydactyly and decreased joint mobility are not present.  Height is usually below the 25th percentile and often at the third or 5th percentile.

 

Genetics

This is an autosomal recessive disorder resulting from mutations in ADAMTS17 (15q26.3).  See also Weill-Marchesani Syndrome 1 (277600), and Weill-Marchesani Syndrome 2 (608328) for other conditions with clinical similarities but caused by different mutations.

Homozygous mutations in LTBP2 (14q24.3) have also been found in this disorder and in WMS1 (277600).

Treatment
Treatment Options: 

Glaucoma requires the usual treatments.  The lens may need to be removed for visual rehabilitation and/or lens induced glaucoma.

References
Article Title: 

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat. 2012 Apr 26. doi: 10.1002/humu.22105. [Epub ahead of print] PubMed PMID: 22539340.

PubMed ID: 
22539340

References

Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat. 2012 Apr 26. doi: 10.1002/humu.22105. [Epub ahead of print] PubMed PMID: 22539340.

PubMedID: 22539340

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet. 2009 Nov;85(5):558-68.

PubMedID: 19836009