ORPHA:2953
Musculocontractural Ehlers-Danlos syndrome
Synonyms: Adducted thumb-clubfoot syndrome · Distal arthrogryposis with peculiar facies and hydronephrosis · Dündar syndrome · Ehlers-Danlos syndrome, Kosho type · Musculocontractural EDS · mcEDS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Musculocontractural Ehlers-Danlos syndrome | Adducted thumb-clubfoot syndrome · Distal arthrogryposis with peculiar facies and hydronephrosis · Dündar syndrome · Ehlers-Danlos syndrome, Kosho type · Musculocontractural EDS · mcEDS |
| fr | Syndrome d'Ehlers-Danlos musculocontractural | Arthrogrypose distale avec faciès caractéristique et hydronéphrose · EDS musculocontractural · SED musculocontractural · SEDmc · Syndrome d'Ehlers-Danlos type Kosho · Syndrome de Dündar · Syndrome des pouces en adduction-pieds bots |
| de | Ehlers-Danlos-Syndrom, muskulo-kontrakturaler Typ | Adduzierte Daumen-Klumpfuß-Syndrom · Distale Arthrogrypose mit Gesichtsdysmorphie und Hydronephrose · Dundar-Syndrom · EDS Typ Kosho · EDS, muskulo-kontrakturaler Typ · Ehlers-Danlos-Syndrom Typ Kosho · Muskulo-kontrakturales Ehlers-Danlos-Syndrom · mcEDS |
| es | Síndrome de Ehlers-Danlos musculocontractural | Artrogriposis distal con facies característica e hidronefrosis · SED musculocontractural · Síndrome de Dündar · Síndrome de Ehlers-Danlos tipo Kosho · Síndrome de pulgares en aducción-pie zambo |
| it | Sindrome di Ehlers-Danlos muscolo-contratturale | Artrogriposi distale con facies caratteristica e idronefrosi · EDS, tipo muscolo-contratturale · Sindrome di Dündar · Sindrome di Ehlers-Danlos, tipo Kosho · Sindrome pollice addotto-piede torto · mcEDS |
| nl | Musculocontracturaal syndroom van Ehlers-Danlos | Distale artrogrypose met abnormaal gelaat en hydronefrose · Geadduceerde duim - klompvoet-syndroom · Musculocontracturaal EDS · Syndroom van Dünbar · Syndroom van Ehlers-Danlos, Kosho-type · mcEDS |
| pt | Síndrome Ehlers-Danlos músculo-contractural | Síndrome Dündar · Síndrome Ehlers-Danlos, tipo Kosho |
| pl | Zespół Ehlersai Danlosa mięśniowo-przykurczowy | Zespół Ehlersa i Danlosa z niedoborem D4ST1 · Zespół Ehlersa i Danlosa związany z CHST14 · Zespół Ehlersa i Danlosa, typu artrogrypozy · Zespół Ehlersa i Danlosa, typu Kosho · Zespół przywiedzionych kciuków i stopy końsko-szpotawej · Zespół przywiedzionych kciuków i stopy końsko-szpotawej, typu Dundar |
| cs | Ehlersův-Danlosův syndrom, typ se svalovými kontrakturami | ATCS · Syndrom zahrnující addukovaný palec a pes equinovarus congenitus · CHST14-vázaný EDS · D4ST1-deficientní EDS · EDS, artrogryposický typ · EDS, typ se svalovými kontrakcemi · Syndrom zahrnující addukované palce a artrogrypózu, Dundarův typ · CHST14-vázaný Ehlersův-Danlosův syndrom · D4ST1-deficientní Ehlersův-Danlosův syndrom · EDS, Koshoův typ · Ehlersův-Danlosův syndrom, Koshoův typ · Ehlersův-Danlosův syndrom, artrogryposický typ · Ehlers-Danlosův syndrom, typ se svalovými kontrakturami · CHST14-vázaný Ehlers-Danlosův syndrom · D4ST1-deficientní Ehlers-Danlosův syndrom · Ehlers-Danlosův syndrom, Koshoův typ · Ehlers-Danlosův syndrom, artrogryposický typ |
| uk | Мязово-контрактурний синдром Елерса-Данлоса | Синдром доданого великого пальця-кісточки стопи · Дистальний артрогрипоз зі своєрідною фасцією та гідронефрозом · Синдром Дюндара · Синдром Елерса-Данлоса, тип Кошо · mcEDS · Мязово-контрактурний EDS |
| zh | Musculocontractural Ehlers-Danlos综合征 | 远端关节挛缩伴特殊面容及肾盂积水 |
| tr | Muskülokontraktürel Ehlers-Danlos sendromu | mcEDS · Dündar sendromu · Bağımlı başparmak-çarpık ayak sendromu · Ehlers-Danlos sendromu, Kosho tipi · Kendine özgü fasiyes ve hidronefroz ile seyredendistal artrogripozis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601776 | E | validated | |
| OMIM | 615539 | BTNT | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0011142 | E | validated | |
| UMLS | C1866294 | E | validated | |
| GARD | 8486 | 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:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:371207Congenital disorder of glycosylation with nephropathy as a major feature
rare genetic diseases; rare renal diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHST14 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24464 | ENSG00000169105 | 608429 | 15q15.1 | carbohydrate sulfotransferase 14 | 22581468[PMID]_20533528[PMID] |
| DSE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21144 | ENSG00000111817 | 605942 | 6q22.1 | dermatan sulfate epimerase | 23704329[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 34 cases | Worldwide | Case(s) | Validated | 26373698[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26373698[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
71 annotations · validated 2019-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000766 | Abnormal sternum morphology | Diagnostic criterion |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0002804 | Arthrogryposis multiplex congenita | Diagnostic criterion |
| HP:0001075 | Atrophic scars | Diagnostic criterion |
| HP:0000592 | Blue sclerae | Diagnostic criterion |
| HP:0000978 | Bruising susceptibility | Diagnostic criterion |
| HP:0002803 | Congenital contracture | Diagnostic criterion |
| HP:0000028 | Cryptorchidism | Diagnostic criterion |
| HP:0003199 | Decreased muscle mass | |
| HP:0006184 | Decreased palmar creases | |
| HP:0002194 | Delayed gross motor development | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000494 | Downslanted palpebral fissures | Diagnostic criterion |
| HP:0012534 | Dysesthesia | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0000218 | High palate | Diagnostic criterion |
| HP:0000974 | Hyperextensible skin | Diagnostic criterion |
| HP:0000316 | Hypertelorism | Diagnostic criterion |
| HP:0000239 | Large fontanelles | Diagnostic criterion |
| HP:0000343 | Long philtrum | Diagnostic criterion |
| HP:0000400 | Macrotia | |
| HP:0001324 | Muscle weakness | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | Diagnostic criterion |
| HP:0005272 | Prominent nasolabial fold | |
| HP:0000411 | Protruding ear | |
| HP:0031869 | Recurrent joint dislocation | Diagnostic criterion |
| HP:0002650 | Scoliosis | Diagnostic criterion |
| HP:0003196 | Short nose | Diagnostic criterion |
| HP:0001238 | Slender finger | Diagnostic criterion |
| HP:0001933 | Subcutaneous hemorrhage | Diagnostic criterion |
| HP:0000219 | Thin upper lip vermilion | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | Diagnostic criterion |
| HP:0000483 | Astigmatism | Diagnostic criterion |
| HP:0010474 | Bladder stones | Diagnostic criterion |
| HP:0002947 | Cervical kyphosis | |
| HP:0002253 | Colonic diverticula | Diagnostic criterion |
| HP:0002019 | Constipation | Diagnostic criterion |
| HP:0007605 | Excessive wrinkling of palmar skin | Diagnostic criterion |
| HP:0001030 | Fragile skin | Diagnostic criterion |
| HP:0002751 | Kyphoscoliosis | Diagnostic criterion |
| HP:0000308 | Microretrognathia | Diagnostic criterion |
| HP:0003198 | Myopathy | |
| HP:0000545 | Myopia | Diagnostic criterion |
| HP:0007906 | Ocular hypertension | |
| HP:0001581 | Recurrent skin infections | |
| HP:0001582 | Redundant skin | |
| HP:0000541 | Retinal detachment | |
| HP:0000486 | Strabismus | Diagnostic criterion |
| HP:0001762 | Talipes equinovarus | Diagnostic criterion |
| HP:0001182 | Tapered finger | Diagnostic criterion |
| HP:0430043 | Thoracic lordosis | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0003414 | Atlantoaxial dislocation | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0001363 | Craniosynostosis | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0000501 | Glaucoma | Diagnostic criterion |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | Diagnostic criterion |
| HP:0000787 | Nephrolithiasis | Diagnostic criterion |
| HP:0002107 | Pneumothorax | Diagnostic criterion |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0000085 | Horseshoe kidney | |
| HP:0000023 | Inguinal hernia | |
| HP:0004794 | Malrotation of small bowel | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 26373698[PMID]_26646600[PMID]_30195269[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2953
- This record as JSON: /data/d/2953.json