Glaucoma - ectopia - microspherophakia - stiff joints - short stature

General Information (adopted from Orphanet):

Synonyms, Signs: MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL
GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME
SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT
GEMSS
WMS2
Gemss syndrome
Number of Symptoms 47
OrphanetNr: 2084
OMIM Id: 608328
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lens size anomaly
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000248) Brachycephaly 222 / 7739
2
 (HPO:0002682) Broad skull 5 / 7739
3
 (HPO:0000586) Shallow orbits 23 / 7739
4
 (HPO:0006482) Abnormality of dental morphology 81 / 7739
5
 (HPO:0000692) Misalignment of teeth 18 / 7739
6
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
7
 (HPO:0000189) Narrow palate 45 / 7739
8
 (HPO:0005280) Depressed nasal bridge 381 / 7739
9
 (HPO:0011003) Severe Myopia 31 / 7739
10
 (HPO:0001083) Ectopia lentis Very frequent [Orphanet] 45 / 7739
11
 (HPO:0000518) Cataract 454 / 7739
12
 (HPO:0001132) Lens subluxation 13 / 7739
13
 (HPO:0007906) Increased intraocular pressure 30 / 7739
14
 (HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
15
 (HPO:0000594) Shallow anterior chamber 8 / 7739
16
 (HPO:0000618) Blindness 124 / 7739
17
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
18
 (HPO:0001256) Intellectual disability, mild 141 / 7739
19
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
20
 (HPO:0002650) Scoliosis 705 / 7739
21
 (HPO:0001169) Broad palm 43 / 7739
22
 (HPO:0001387) Joint stiffness 322 / 7739
23
 (HPO:0006009) Broad phalanx 11 / 7739
24
 (HPO:0000885) Broad ribs 21 / 7739
25
 (HPO:0002753) Thin bony cortex 16 / 7739
26
 (HPO:0003416) Spinal canal stenosis 28 / 7739
27
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
28
 (HPO:0001230) Broad metacarpals 17 / 7739
29
 (HPO:0009768) Broad phalanges of the hand 3 / 7739
30
 (HPO:0001783) Broad metatarsal 9 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (HPO:0003508) Proportionate short stature 12 / 7739
33
 (HPO:0001072) Thickened skin 87 / 7739
34
 (HPO:0001650) Aortic valve stenosis 49 / 7739
35
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
36
 (HPO:0001627) Abnormal heart morphology 19 / 7739
37
 (HPO:0001642) Pulmonic stenosis 89 / 7739
38
 (HPO:0001629) Ventricular septal defect 316 / 7739
39
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
40
 (HPO:0001653) Mitral regurgitation 64 / 7739
41
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
42
 (OMIM) Adult male height 142-169 cm 2 / 7739
43
 (OMIM) Muscular build 2 / 7739
44
 (MedDRA:10072883) Brachydactyly 153 / 7739
45
 (OMIM) Joint limitation 3 / 7739
46
 (OMIM) Microspherophakia 7 / 7739
47
 (OMIM) Adult female height 130-157 cm 2 / 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 Probert (1953) described a family in which 4 sibs (3 females, 1 male) had spherophakia with brachydactyly, and one of their parents and many relatives had brachymorphism. The inheritance pattern was autosomal dominant. The authors noted the phenotypic ...
Molecular genetics OMIM In the affected family reported by Gorlin et al. (1974), Faivre et al. (2003) identified heterozygosity for a 24-bp deletion in the FBN1 gene (134797.0040) which cosegregated with the disease. No mutation in the FBN1 gene was detected ...