raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1899

Arthrochalasia Ehlers-Danlos syndrome

Synonyms: Arthrochalasia EDS · Arthrochalasis multiplex congenita · EDS VII · Ehlers-Danlos syndrome type 7 · Ehlers-Danlos syndrome, arthrochalasia type · aEDS

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal
Status
active

A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enArthrochalasia Ehlers-Danlos syndromeArthrochalasia EDS · Arthrochalasis multiplex congenita · EDS VII · Ehlers-Danlos syndrome type 7 · Ehlers-Danlos syndrome, arthrochalasia type · aEDS
frSyndrome d'Ehlers-Danlos type arthrochalasiqueEDS VII · SED VII · SEDa · Syndrome d'Ehlers-Danlos type 7
deEhlers-Danlos-Syndrom, Arthrochalasie-TypArthrochalasie EDS · Arthrochalasis multiplex congenita · EDS VII · Ehlers-Danlos-Syndrom Typ 7 · aEDS
esSíndrome de Ehlers-Danlos artrocalasiaArtrocalasia múltiple congénita · SED VII · SED atrocalasia · Síndrome de Ehlers-Danlos tipo 7 · Síndrome de Ehlers-Danlos tipo artrocalasia
itSindrome di Ehlers-Danlos tipo artrocalasicoArtrocalasia multipla congenita · EDS VII · EDS tipo artrocalasico · Sindrome di Ehlers-Danlos, tipo 7 · Sindrome di Ehlers-Danlos, tipo artrocalasia · aEDS
nlSyndroom van Ehlers-Danlos, artrochalasie-typeArthrochalasis multiplex congenita · EDS VII · EDS, artrochalasie-type · Syndroom van Ehlers-Danlos type 7 · aEDS
ptSíndrome de artroclasia Ehlers-DanlosArtroclasis multiplex congénita · EDS VII · Síndrome Ehlers-Danlos tipo artrocalásico
plZespół Ehlersa i Danlosa z artrochalazją (wiotkością stawów)Zespół Ehlersa i Danlosa, typ z wiotkością stawów
csEhlersův-Danlosův syndrom, typ arthrochalasis multiplexEDS VII · Ehlersův-Danlosův syndrom, typ VII · Ehlers-Danlosův syndrom, typ arthrochalasis multiplex · Ehlers-Danlosův syndrom, typ VII
ukСиндром Елерса-Данлоса, артрохалазіяAEDS · EDS з артрохалазією · Вроджений множинний артрохалязіс · EDS VII · Синдром Елерса-Данлоса, тип 7 · Синдром Елерса-Данлоса, тип артрохалазії
zh关节松弛型Ehlers-Danlos综合征Ehlers-Danlos综合征关节松弛型
trArtrokalazi Ehlers-Danlos sendromuAEDS · EDS VII · Ehlers-Danlos sendromu tip 7 · Artrokalazis multipleks doğumsal · Ehlers-Danlos sendromu, artrokalazi tipi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM130060Evalidated
OMIM617821BTNTvalidated
ICD-10Q79.6NTBTattributedvalidated
ICD-11LD28.1YNTBTindexvalidated
MONDO0007525Evalidated
UMLSC0268345Evalidated
GARD2084Evalidated

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 (1):

  • ORPHA:98249Ehlers-Danlos syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
COL1A1Disease-causing germline mutation(s) inAssessedHGNC:2197ENSG0000010882112015017q21.33collagen type I alpha 1 chain9295084[PMID]_1867198[PMID]
COL1A2Disease-causing germline mutation(s) inAssessedHGNC:2198ENSG000001646921201607q21.3collagen type I alpha 2 chain9295084[PMID]_8071956[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidated[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

46 annotations · validated 2026-03-23
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0008780Congenital bilateral hip dislocationDiagnostic criterion
HP:0031936Delayed ability to walk
HP:0002761Generalized joint hypermobilityDiagnostic criterion
HP:0002827Hip dislocation
HP:0001385Hip dysplasia
HP:0000974Hyperextensible skinDiagnostic criterion
HP:0001270Motor delay
HP:0012095Multiple joint dislocationDiagnostic criterion
HP:0000963Thin skin
Frequent (79-30%)
HP:0001760Abnormal foot morphology
HP:0002829Arthralgia
HP:0005280Depressed nasal bridge
HP:0000286Epicanthus
HP:0001030Fragile skinDiagnostic criterion
HP:0002007Frontal bossing
HP:0100790Hernia
HP:0000316Hypertelorism
HP:0001252HypotoniaDiagnostic criterion
HP:0002659Increased susceptibility to fractures
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000278Retrognathia
HP:0002650Scoliosis
HP:0004322Short stature
HP:0000977Soft skin
HP:0001883Talipes
Occasional (29-5%)
HP:0001075Atrophic scarsDiagnostic criterion
HP:0000592Blue sclerae
HP:0001623Breech presentation
HP:0000978Bruising susceptibilityDiagnostic criterion
HP:0410030Cleft lip
HP:0000175Cleft palate
HP:0001558Decreased fetal movement
HP:0000703Dentinogenesis imperfecta
HP:0100541Femoral hernia
HP:0001822Hallux valgus
HP:0000023Inguinal hernia
HP:0002751KyphoscoliosisDiagnostic criterion
HP:0011800Midface retrusion
HP:0000545Myopia
HP:0000938OsteopeniaDiagnostic criterion
HP:0001561Polyhydramnios
HP:0001788Premature rupture of membranes
HP:0006150Swan neck-like deformities of the fingers
HP:0002645Wormian bones

Run the differential on the 10 obligate / very frequent terms

Annotation source: 28306229[PMID]_35162892[PMID]_40615270[PMID]_32091183[PMID]

7

Sources for this card