ORPHA:536516
Myopathic Ehlers-Danlos syndrome
Synonyms: EDS/myopathy overlap syndrome · Myopathic EDS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myopathic Ehlers-Danlos syndrome | EDS/myopathy overlap syndrome · Myopathic EDS |
| fr | Syndrome d'Ehlers-Danlos myopathique | Syndrome de superposition SED/myopathie · SED myopathique |
| de | Ehlers-Danlos-Syndrom, myopathischer Typ | EDS, myopathisches · EDS/Myopathie-Overlap-Syndrom |
| es | Síndrome de Ehlers-Danlos miopático | SED miopático · Síndrome de solapamiento de SED/miopatía |
| it | Sindrome di Ehlers-Danlos miopatica | |
| nl | Myopathisch syndroom van Ehlers-Danlos | EDS/myopathie-overlapsyndroom · Myopathisch EDS · mEDS |
| pt | Síndrome Ehlers-Danlos miopático | |
| pl | Zespół Ehlersa i Danlosa miopatyczny | = en |
| cs | Myopatický Ehlers-Danlosův syndrom | = en |
| uk | Міопатичний синдром Елерса-Данлоса | Синдром накладання EDS/міопатії · Міопатичний EDS |
| zh | 肌病性埃勒斯-当洛斯综合征 | 埃勒斯-当洛斯/肌病重叠综合征 |
| tr | Miyopatik Ehlers-Danlos sendromu | Miyopatik EDS · EDS/miyopati örtüşen sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616471 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0034022 | E | validated | |
| UMLS | C5680153 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL12A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2188 | ENSG00000111799 | 120320 | 6q13-q14.1 | collagen type XII alpha 1 chain | 28306229[PMID]_28306225[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28306225[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28306225[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
53 annotations · validated 2019-11-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001371 | Flexion contracture | |
| HP:0001382 | Joint hypermobility | |
| Frequent (79-30%) | ||
| HP:0001075 | Atrophic scars | Diagnostic criterion |
| HP:0025335 | Delayed ability to stand | |
| HP:0031936 | Delayed ability to walk | |
| HP:0020152 | Distal joint hypermobility | Diagnostic criterion |
| HP:0003324 | Generalized muscle weakness | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0001270 | Motor delay | Diagnostic criterion |
| HP:0003198 | Myopathy | Diagnostic criterion |
| HP:0003202 | Skeletal muscle atrophy | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0001284 | Areflexia | |
| HP:0000592 | Blue sclerae | |
| HP:0008780 | Congenital bilateral hip dislocation | |
| HP:0002803 | Congenital contracture | |
| HP:0005879 | Congenital finger flexion contractures | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0003199 | Decreased muscle mass | |
| HP:0010862 | Delayed fine motor development | |
| HP:0002987 | Elbow flexion contracture | Diagnostic criterion |
| HP:0003546 | Exercise intolerance | |
| HP:0001508 | Failure to thrive | |
| HP:0008366 | Foot joint contracture | |
| HP:0002705 | High, narrow palate | |
| HP:0000974 | Hyperextensible skin | |
| HP:0003307 | Hyperlordosis | |
| HP:0001252 | Hypotonia | Diagnostic criterion |
| HP:0009473 | Joint contracture of the hand | |
| HP:0032152 | Keratosis pilaris | |
| HP:0006380 | Knee flexion contracture | Diagnostic criterion |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002808 | Kyphosis | |
| HP:0001601 | Laryngomalacia | |
| HP:0000347 | Micrognathia | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0002828 | Multiple joint contractures | Diagnostic criterion |
| HP:0000545 | Myopia | |
| HP:0001319 | Neonatal hypotonia | Diagnostic criterion |
| HP:0000980 | Pallor | |
| HP:0010499 | Patellar subluxation | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0001058 | Poor wound healing | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002650 | Scoliosis | |
| HP:0003044 | Shoulder flexion contracture | |
| HP:0000977 | Soft skin | Diagnostic criterion |
| HP:0001762 | Talipes equinovarus | |
| HP:0001182 | Tapered finger | |
| HP:0030051 | Tip-toe gait | |
| HP:0030319 | Weakness of facial musculature | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31273343[PMID]_25821091[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/536516
- This record as JSON: /data/d/536516.json