raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:285

Hypermobile Ehlers-Danlos syndrome

Synonyms: EDS III · EDS-HT · Ehlers-Danlos syndrome hypermobility type · Ehlers-Danlos syndrome type 3 · Hypermobile EDS · hEDS

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
All ages
Status
active

Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHypermobile Ehlers-Danlos syndromeEDS III · EDS-HT · Ehlers-Danlos syndrome hypermobility type · Ehlers-Danlos syndrome type 3 · Hypermobile EDS · hEDS
frSyndrome d'Ehlers-Danlos hypermobileEDS III · EDS-HT · EDSh · SED III · SEDh · Syndrome d'Ehlers-Danlos type 3
deEhlers-Danlos-Syndrom, hypermobiler TyphEDS · EDS III · EDS-HT · Ehlers-Danlos-Syndrom Typ 3 · Hypermobiles EDS · Hypermobiles Ehlers-Danlos-Syndrom
esSíndrome de Ehlers-Danlos hipermóvilSED III · SED hipermóvil · Síndrome de Ehlers-Danlos tipo 3 · Síndrome de Ehlers-Danlos tipo hipermovilidad
itSindrome di Ehlers-Danlos tipo ipermobileEDS III · EDS ipermobile · HT-EDS · Sindrome di Ehlers-Danlos, tipo 3 · Sindrome di Ehlers-Danlos, tipo ipermobilità · hEDS
nlHypermobiel syndroom van Ehlers-DanlosEDS III · EDS-HT · Hypermobiel EDS · Syndroom van Ehlers-Danlos type 3 · Syndroom van Ehlers-Danlos, hypermobiliteit-type · hEDS
ptSíndrome Ehlers-Danlos hipermobilidadeEDS III · Síndrome Ehlers-Danlos tipo 3
plZespół Ehlersa i Danlosa z nadmierną ruchomością stawówŁagodny zespół nadmiernej ruchomości stawów · Zespół Ehlersa i Danlosa, typ hipermobilny
csEhlersův-Danlosův syndrom, hypermobilní typBJHS · Syndrom benigní kloubní hypermobility · EDS III · HT-EDS · Ehlersův-Danlosův syndrom, typ 3 · Ehlers-Danlosův syndrom, hypermobilní typ · Ehlers-Danlosův syndrom, typ 3
ukСиндром гіпермобільності Елерса-ДанлосаEDS III · EDS-HT · Синдром Елерса-Данлоса, гіпермобільний тип · Синдром Елерса-Данлоса, тип 3 · hEDS · Гіпермобільний EDS
zh过度活动Ehlers-Danlos综合征Ehlers-Danlos综合征运动过强型
trHipermobil Ehlers-Danlos sendromuHEDS · EDS-HT · EDS III · Ehlers-Danlos sendromu tip 3 · Ehlers-Danlos sendromu hipermobilite tipi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM130020Evalidated
ICD-10Q79.6NTBTattributedvalidated
ICD-11LD28.1YNTBTindexvalidated
MONDO0007523Evalidated
MeSHC536196Evalidated
UMLSC0268337Evalidated
GARD2081Evalidated

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.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalence1-5 / 10 00012.5 / 100 000EuropeValue and classNot yet validatedORPHANET

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

71 annotations · validated 2023-09-21
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0001760Abnormal foot morphology
HP:0001063Acrocyanosis
HP:0002829Arthralgia
HP:0003042Elbow dislocation
HP:0012378Fatigue
HP:0002761Generalized joint hypermobilityDiagnostic criterion
HP:0002827Hip dislocation
HP:0000974Hyperextensible skinDiagnostic criterion
HP:0001373Joint dislocation
HP:0003326Myalgia
HP:0002360Sleep abnormality
HP:0002321Vertigo
HP:0002645Wormian bones
Frequent (79-30%)
HP:0000739Anxiety
HP:0001166ArachnodactylyDiagnostic criterion
HP:0011675Arrhythmia
HP:0001075Atrophic scarsDiagnostic criterion
HP:0000978Bruising susceptibility
HP:0012532Chronic pain
HP:0002019Constipation
HP:0000762Decreased nerve conduction velocity
HP:0000678Dental crowdingDiagnostic criterion
HP:0000716Depression
HP:0100541Femoral herniaDiagnostic criterion
HP:0002024Malabsorption
HP:0002076Migraine
HP:0001634Mitral valve prolapseDiagnostic criterion
HP:0002017Nausea and vomiting
HP:0002758Osteoarthritis
HP:0031607Pelvic organ prolapseDiagnostic criterion
HP:0001763Pes planus
HP:0025509Piezogenic pedal papulesDiagnostic criterion
HP:0002035Rectal prolapseDiagnostic criterion
HP:0000977Soft skinDiagnostic criterion
HP:0001065Striae distensaeDiagnostic criterion
HP:0000963Thin skin
Occasional (29-5%)
HP:0012332Abnormal autonomic nervous system physiology
HP:0003019Abnormality of the wrist
HP:0012732Anorectal anomaly
HP:0002616Aortic root aneurysm
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0002104Apnea
HP:0005294Arterial dissection
HP:0004970Ascending tubular aorta aneurysm
HP:0100645Cystocele
HP:0000144Decreased fertility
HP:0000286Epicanthus
HP:0000421Epistaxis
HP:0002020Gastroesophageal reflux
HP:0002579Gastrointestinal dysmotility
HP:0100823Genital hernia
HP:0000212Gingival overgrowth
HP:0000230Gingivitis
HP:0011003High myopia
HP:0002705High, narrow palateDiagnostic criterion
HP:0000023Inguinal herniaDiagnostic criterion
HP:0001097Keratoconjunctivitis sicca
HP:0000563Keratoconus
HP:0032152Keratosis pilaris
HP:0001376Limitation of joint mobility
HP:0400008Menometrorrhagia
HP:0000691Microdontia
HP:0002797Osteolysis
HP:0003401Paresthesia
HP:0000508Ptosis
HP:0030880Raynaud phenomenon
HP:0002650Scoliosis
HP:0001482Subcutaneous nodule
HP:0100550Tendon rupture
HP:0001537Umbilical herniaDiagnostic criterion
HP:0005293Venous insufficiency

Run the differential on the 12 obligate / very frequent terms

Annotation source: 20301456[PMID]

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Sources for this card