Ehlers-Danlos syndrome
Synonyms: EDS
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ehlers-Danlos syndrome | EDS |
| fr | Syndrome d'Ehlers-Danlos | |
| de | Ehlers-Danlos-Syndrom | |
| es | Síndrome de Ehlers-Danlos | SED |
| it | Sindrome di Ehlers-Danlos | = en |
| nl | Syndroom van Ehlers-Danlos | = en |
| pt | Síndrome Ehlers-Danlos | |
| pl | Zespół Ehlersa i Danlosa | = en |
| cs | Ehlersův-Danlosův syndrom | Ehlers-Danlosův syndrom |
| uk | Синдром Елерса-Данлоса | = en |
| zh | Ehlers-Danlos综合征 | = en |
| tr | Ehlers-Danlos sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q79.6 | E | specific | validated |
| ICD-11 | LD28.1 | E | specific | validated |
| MONDO | 0020066 | E | validated | |
| MeSH | D004535 | E | validated | |
| UMLS | C0013720 | E | validated | |
| GARD | 6322 | E | validated | |
| MedDRA | 10014316 | 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 (5):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:619249Rare hereditary connective tissue disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
Children (16):
- ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome
- ORPHA:90354Brittle cornea syndrome
- ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome
- ORPHA:287Classical Ehlers-Danlos syndrome
- ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome
- ORPHA:285Hypermobile Ehlers-Danlos syndrome
- ORPHA:536545Kyphoscoliotic Ehlers-Danlos syndrome
- ORPHA:2953Musculocontractural Ehlers-Danlos syndrome
- ORPHA:536516Myopathic Ehlers-Danlos syndrome
- ORPHA:75392Periodontal Ehlers-Danlos syndrome
- ORPHA:536471Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:286Vascular Ehlers-Danlos syndrome
- ORPHA:636941Vascular Ehlers-Danlos-polymicrogyria syndrome
- ORPHA:75497X-linked Ehlers-Danlos syndrome
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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/98249
- This record as JSON: /data/d/98249.json