WEILL-MARCHESANI SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: WMS3
Number of Symptoms 12
OrphanetNr:
OMIM Id: 614819
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000594) Shallow anterior chamber 8 / 7739
2
(HPO:0001083) Ectopia lentis 45 / 7739
3
(HPO:0007906) Increased intraocular pressure 30 / 7739
4
(HPO:0000545) Myopia 286 / 7739
5
(HPO:0001156) Brachydactyly syndrome 180 / 7739
6
(HPO:0001387) Joint stiffness 322 / 7739
7
(HPO:0004322) Short stature 1232 / 7739
8
(HPO:0001642) Pulmonic stenosis 89 / 7739
9
(HPO:0001650) Aortic valve stenosis 49 / 7739
10
(OMIM) Microspherophakia 7 / 7739
11
(MedDRA:10072883) Brachydactyly 153 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).

For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see ...

Clinical Description OMIM Haji-Seyed-Javadi et al. (2012) studied a large consanguineous Iranian family in which a brother and sister and their cousin had Weill-Marchesani syndrome, whereas 3 older sibs of the brother and sister displayed some features of WMS without meeting ...
Molecular genetics OMIM Haji-Seyed-Javadi et al. (2012) screened the LTBP2 gene for sequence variations in 30 unrelated Iranian probands with ectopia lentis (see 129600), which was isolated in 13 and associated with WMS in 4 and with Marfan syndrome (MFS; 154700) ...