Vascular Ehlers-Danlos-polymicrogyria syndrome
Synonyms: Vascular EDS with polymicrogyria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare type of Ehlers-Danlos syndrome characterized by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally-accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay, and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vascular Ehlers-Danlos-polymicrogyria syndrome | Vascular EDS with polymicrogyria |
| fr | Syndrome d'Ehlers-Danlos vasculaire-polymicrogyrie | EDS vasculaire associée à une polymicrogyrie |
| de | Vaskuläres Ehlers-Danlos-Polymikrogyrie-Syndrom | |
| es | Síndrome de Ehlers-Danlos vascular-polimicrogiria | |
| it | Sindrome di Ehlers-Danlos vascolare-polimicrogiria | |
| nl | Vasculair Ehlers-Danlos - polymicrogyrie-syndroom | |
| pt | Síndrome Ehlers-Danlos vascular-polimicrogiria | |
| pl | Zespół naczyniowej postaci zespołu Ehlersa-Danlosa - polimikrogyrii | = en |
| cs | Syndrom zahrnující vaskulární Ehlersův-Danlosův syndrom a polymikrogyrii | = en |
| uk | Судинний синдром Елерса-Данлоса з полімікрогірією | Судинний EDS з полімікрогірією |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618343 | NTBT | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0032688 | E | validated | |
| UMLS | C5816785 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL3A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2201 | ENSG00000168542 | 120180 | 2q32.2 | collagen type III alpha 1 chain | 28742248[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 29499446[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29499446[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/636941
- This record as JSON: /data/d/636941.json