Classical-like Ehlers-Danlos syndrome type 2
Synonyms: AEBP1-related EDS · AEBP1-related Ehlers-Danlos syndrome · Classical-like EDS type 2 · clEDS type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classical-like Ehlers-Danlos syndrome type 2 | AEBP1-related EDS · AEBP1-related Ehlers-Danlos syndrome · Classical-like EDS type 2 · clEDS type 2 |
| fr | Syndrome d'Ehlers-Danlos classique-like type 2 | SED associé à AEBP1 · SED classique-like type 2 · SEDcl type 2 · Syndrome d'Ehlers-Danlos associé à AEBP1 |
| de | Ehlers-Danlos-Syndrom, klassisch-ähnlicher Typ 2 | EDS, AEBP1-assoziiertes · EDS, klassisch-ähnliches, Typ 2 · Ehlers-Danlos-Syndrom, AEBP1-abhängiger Typ · clEDS Typ 2 |
| es | Síndrome de Ehlers-Danlos similar al tipo clásico 2 | SED asociado al gen AEBP1 · SED similar al tipo clásico 2 · Síndrome de Ehlers-Danlos asociado al gen AEBP1 |
| it | Sindrome di Ehlers-Danlos simil-classica tipo 2 | |
| nl | Klassiek-gelijkend syndroom van Ehlers-Danlos type 2 | AEBP1-gerelateerd EDS · AEBP1-gerelateerd syndroom van Ehlers-Danlos · Klassiek-gelijkend EDS type 2 · clEDS type 2 |
| pt | Síndrome Ehlers-Danlos semelhante ao clássico tipo 2 | |
| pl | Zespół podobny do klasycznego zespołu Ehlersa i Danlosa typu 2 | = en |
| cs | Ehlersův-Danlosův syndrom, typ 2 podobný klasickému | clEDS, typ 2 · AEBP1-vázaný EDS · EDS, typ 2 podobný klasickému · AEBP1-vázaný Ehlersův-Danlosův syndrom · Ehlers-Danlosův syndrom, typ 2 podobný klasickému · AEBP1-vázaný Ehlers-Danlosův syndrom |
| uk | Класичний синдром Елерса-Данлоса, тип 2 | EDS, повязані з AEBP1 · Синдром Елерса-Данлоса, повязаний з AEBP1 · Класичний EDS типу 2 · clEDS type 2 |
| zh | 经典肌病性埃勒斯-当洛斯综合征2型 | Classical-like EDS type 2 |
| tr | Klasik benzeri Ehlers-Danlos sendromu tip 2 | clEDS tip 2 · AEBP1-ilişkili EDS · Klasik benzeri EDS tip 2 · AEBP1 ilişkili Ehlers-Danlos sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618000 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| MONDO | 0054813 | E | validated | |
| UMLS | C4693870 | 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 (2):
- ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AEBP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:303 | ENSG00000106624 | 602981 | 7p13 | AE binding protein 1 | 30759870[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 30759870[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30759870[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.
HPO phenotypes
63 annotations · validated 2019-11-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0000978 | Bruising susceptibility | |
| HP:0001822 | Hallux valgus | |
| HP:0001765 | Hammertoe | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001373 | Joint dislocation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000938 | Osteopenia | |
| HP:0001763 | Pes planus | |
| HP:0001582 | Redundant skin | |
| HP:0031158 | Widened atrophic scar | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002827 | Hip dislocation | |
| HP:0004976 | Knee dislocation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0025509 | Piezogenic pedal papules | |
| HP:0007457 | Prominent veins on trunk | |
| HP:0001537 | Umbilical hernia | |
| HP:0002933 | Ventral hernia | |
| Occasional (29-5%) | ||
| HP:0001780 | Abnormality of toe | |
| HP:0001596 | Alopecia | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0001166 | Arachnodactyly | |
| HP:0000483 | Astigmatism | |
| HP:0001488 | Bilateral ptosis | |
| HP:0025232 | Bursitis | |
| HP:0100546 | Carotid artery stenosis | |
| HP:0100658 | Cellulitis | |
| HP:0000028 | Cryptorchidism | |
| HP:0000819 | Diabetes mellitus | |
| HP:0003994 | Dislocated wrist | |
| HP:0003042 | Elbow dislocation | |
| HP:0008138 | Equinus calcaneus | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0001252 | Hypotonia | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0000023 | Inguinal hernia | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002808 | Kyphosis | |
| HP:0010810 | Long uvula | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0000545 | Myopia | |
| HP:0000189 | Narrow palate | |
| HP:0000767 | Pectus excavatum | |
| HP:0001698 | Pericardial effusion | |
| HP:0000704 | Periodontitis | |
| HP:0006243 | Phalangeal dislocation | |
| HP:0006480 | Premature loss of teeth | |
| HP:0006439 | Radioulnar dislocation | |
| HP:0000960 | Sacral dimple | |
| HP:0001852 | Sandal gap | |
| HP:0003834 | Shoulder dislocation | |
| HP:0000486 | Strabismus | |
| HP:0009938 | Sunken cheeks | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0000692 | Tooth malposition | |
| HP:0002619 | Varicose veins | |
| HP:0000465 | Webbed neck | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 30759870[PMID]_29606302[PMID]_27023906[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/536532
- This record as JSON: /data/d/536532.json