WEILL-MARCHESANI SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL
SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
WMS1
Number of Symptoms 43
OrphanetNr:
OMIM Id: 277600
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:0000189) Narrow palate 45 / 7739
2
 (HPO:0000248) Brachycephaly 222 / 7739
3
 (HPO:0000586) Shallow orbits 23 / 7739
4
 (HPO:0005280) Depressed nasal bridge 381 / 7739
5
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
6
 (HPO:0006482) Abnormality of dental morphology 81 / 7739
7
 (HPO:0002682) Broad skull 5 / 7739
8
 (HPO:0000692) Misalignment of teeth 18 / 7739
9
 (HPO:0007906) Increased intraocular pressure 30 / 7739
10
 (HPO:0000501) Glaucoma 180 / 7739
11
 (HPO:0000594) Shallow anterior chamber 8 / 7739
12
 (HPO:0001083) Ectopia lentis 45 / 7739
13
 (HPO:0000518) Cataract 454 / 7739
14
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
15
 (HPO:0001132) Lens subluxation 13 / 7739
16
 (HPO:0000618) Blindness 124 / 7739
17
 (HPO:0011003) Severe Myopia 31 / 7739
18
 (HPO:0001256) Intellectual disability, mild 141 / 7739
19
 (HPO:0002650) Scoliosis 705 / 7739
20
 (HPO:0002753) Thin bony cortex 16 / 7739
21
 (HPO:0001169) Broad palm 43 / 7739
22
 (HPO:0006009) Broad phalanx 11 / 7739
23
 (HPO:0003416) Spinal canal stenosis 28 / 7739
24
 (HPO:0001387) Joint stiffness 322 / 7739
25
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
26
 (HPO:0000885) Broad ribs 21 / 7739
27
 (HPO:0001783) Broad metatarsal 9 / 7739
28
 (HPO:0001230) Broad metacarpals 17 / 7739
29
 (HPO:0003508) Proportionate short stature 12 / 7739
30
 (HPO:0001072) Thickened skin 87 / 7739
31
 (HPO:0001629) Ventricular septal defect 316 / 7739
32
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
33
 (HPO:0001650) Aortic valve stenosis 49 / 7739
34
 (HPO:0001627) Abnormal heart morphology 19 / 7739
35
 (HPO:0001653) Mitral regurgitation 64 / 7739
36
 (HPO:0001642) Pulmonic stenosis 89 / 7739
37
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
38
 (OMIM) Adult female height 130-157 cm 2 / 7739
39
 (OMIM) Adult male height 142-169 cm 2 / 7739
40
 (OMIM) Microspherophakia 7 / 7739
41
 (OMIM) Muscular build 2 / 7739
42
 (MedDRA:10072883) Brachydactyly 153 / 7739
43
 (OMIM) Joint limitation 3 / 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).

- Genetic Heterogeneity of Weill-Marchesani Syndrome

A phenotypically similar, autosomal dominant form ...
Clinical Description OMIM Weill (1932) and Marchesani (1939) first described the syndrome. Meyer and Holstein (1941) described 4 affected sibs whose parents were related. Features included short stature, spherophakia with glaucoma, and brachydactyly. Rennert (1969) described an affected 9-year-old boy with ...
Molecular genetics OMIM Dagoneau et al. (2004) described homozygous mutations in the ADAMTS10 gene (608990.0001-608990.0003) in the consanguineous Lebanese and Saudi families studied by Faivre et al. (2002). Dagoneau et al. (2004) stated that more than 100 known genes were found ...