ORPHA:3449
Weill-Marchesani syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare connective tissue disorder characterized by acromelic short stature, joint stiffness, stiff and thick skin, and characteristic eye abnormalities including microspherophakia, ectopia lentis, severe myopia, and glaucoma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Weill-Marchesani syndrome | |
| fr | Syndrome de Weill-Marchesani | |
| de | Weill-Marchesani-Syndrom | Sphärophakie-Brachymorphie-Syndrom |
| es | Síndrome de Weill-Marchesani | |
| it | Sindrome Weill-Marchesani | |
| nl | Syndroom van Weill-Marchesani | |
| pt | Síndrome Weill-Marchesani | Síndrome de esferofaquia-braquimorfia |
| pl | Zespół Weilla i Marchesaniego | Sferofakia - brachymorfia |
| cs | Weillův-Marchesaniho syndrom | Syndrom zahrnující sferofakii a brachymorfii · Weill-Marchesaniho syndrom |
| uk | Синдром Вайля-Маркесані | Синдром сферофакії-брахіморфії |
| zh | Weill-Marchesani综合征 | 球形晶状体-短形综合征 |
| tr | Weill-Marchesani sendromu | Sferofaki-brakimorfi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277600 | BTNT | validated | |
| OMIM | 608328 | BTNT | validated | |
| OMIM | 613195 | BTNT | validated | |
| OMIM | 614819 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | index | validated |
| ICD-11 | 9C61.42 | NTBT | index | validated |
| MONDO | 0018096 | E | validated | |
| MeSH | D056846 | E | validated | |
| UMLS | C0265313 | E | validated | |
| GARD | 4936 | E | validated | |
| MedDRA | 10064963 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases - ORPHA:519294Syndromic microspherophakia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAMTS17 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17109 | ENSG00000140470 | 607511 | 15q26.3 | ADAM metallopeptidase with thrombospondin type 1 motif 17 | 19836009[PMID] |
| ADAMTS10 | Disease-causing germline mutation(s) in | Assessed | HGNC:13201 | ENSG00000142303 | 608990 | 19p13.2 | ADAM metallopeptidase with thrombospondin type 1 motif 10 | 20301293[PMID] |
| FBN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 | 20301293[PMID] |
| LTBP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6715 | ENSG00000119681 | 602091 | 14q24.3 | latent transforming growth factor beta binding protein 2 | 20301293[PMID]_22539340[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 20301293[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2024-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000501 | Glaucoma | |
| HP:0011003 | High myopia | |
| HP:0030961 | Microspherophakia | |
| HP:0004322 | Short stature | |
| HP:0009778 | Short thumb | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001083 | Ectopia lentis | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0000518 | Cataract | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001387 | Joint stiffness | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005184 | Prolonged QTc interval | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000572 | Visual loss | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301293[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3449
- This record as JSON: /data/d/3449.json