raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:230839

Classical-like Ehlers-Danlos syndrome type 1

Synonyms: Classical-like EDS type 1 · Ehlers-Danlos syndrome due to tenascin-X deficiency · clEDS type 1

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

A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enClassical-like Ehlers-Danlos syndrome type 1Classical-like EDS type 1 · Ehlers-Danlos syndrome due to tenascin-X deficiency · clEDS type 1
frSyndrome d'Ehlers-Danlos classique-like type 1EDS classique-like type 1 · SED classique-like type 1 · SEDcl type 1 · Syndrome d'Ehlers-Danlos par déficit en ténascine-X
deEhlers-Danlos-Syndrom, klassisch-ähnlicher Typ 1EDS, klassisch-ähnliches, Typ 1 · Ehlers-Danlos-Syndrom durch Tenascin-X-Mangel · clEDS Typ 1
esSíndrome de Ehlers-Danlos similar al tipo clásico 1SED similar al tipo clásico 1 · Síndrome de Ehlers-Danlos por deficiencia de tenascina-X
itSindrome di Ehlers-Danlos simil-classica tipo 1EDS, tipo simil-classico · Sindrome di Ehlers-Danlos da deficit di tenascina-X
nlKlassiek-gelijkend syndroom van Ehlers-Danlos type 1Klassiek-gelijkend EDS type 1 · Syndroom van Ehlers-Danlos door tenascine-X-deficiëntie · clEDS type 1
ptSíndrome de Ehlers-Danlos, tipo clássico-like
plZespół Ehlersa i Danlosa z powodu niedoboru tenascyny-XEDS, typ podobny do klasycznego · Zespół Ehlersa i Danlosa, typ podobny do klasycznego
csEhlersův-Danlosův syndrom způsobený deficitem tenascinu-XEDS, typ podobný klasickému · Ehlersův-Danlosův syndrom, typ podobný klasickému · Ehlers-Danlosův syndrom způsobený deficitem tenascinu-X · Ehlers-Danlosův syndrom, typ podobný klasickému
ukКласичний синдром Елерса-Данлоса, тип 1Класичний EDS типу 1 · clEDS тип 1 · Синдром Елерса-Данлоса внаслідок дефіциту тенасцину-Х
zh经典样埃勒斯-当洛斯综合征1型固生蛋白X缺乏所致埃勒斯-当洛斯综合征
trKlasik-benzeri Ehlers-Danlos sendromu tip 1CLEDS tip 1 · Klasik-benzeri EDS tip 1 · Tenascin-X eksikliğine bağlı Ehlers-Danlos sendromu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM606408Evalidated
ICD-10Q79.6NTBTattributedvalidated
ICD-11LD28.1YNTBTindexvalidated
MONDO0011670Evalidated
MeSHC536193Evalidated
UMLSC1848029Evalidated
GARD8507Evalidated

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 (4):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
TNXBDisease-causing germline mutation(s) inAssessedHGNC:11976ENSG000001684776009856p21.33-p21.32tenascin XB11642233[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families17 casesWorldwideCase(s)Validated27582382[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_27582382[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.

6

HPO phenotypes

46 annotations · validated 2026-03-18
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0000974Hyperextensible skinDiagnostic criterion
Very frequent (99-80%)
HP:0001760Abnormal foot morphologyDiagnostic criterion
HP:0000978Bruising susceptibilityDiagnostic criterion
HP:0002761Generalized joint hypermobilityDiagnostic criterion
HP:0000977Soft skin
HP:0007420Spontaneous hematomasDiagnostic criterion
Frequent (79-30%)
HP:0002829Arthralgia
HP:0003418Back pain
HP:0001156BrachydactylyDiagnostic criterion
HP:0001769Broad footDiagnostic criterion
HP:0012378Fatigue
HP:0001822Hallux valgusDiagnostic criterion
HP:0001252Hypotonia
HP:0012095Multiple joint dislocationDiagnostic criterion
HP:0001324Muscle weaknessDiagnostic criterion
HP:0009830Peripheral neuropathy
HP:0001763Pes planusDiagnostic criterion
HP:0025509Piezogenic pedal papulesDiagnostic criterion
HP:0001058Poor wound healing
HP:0000763Sensory neuropathy
HP:0009381Short finger
HP:0001831Short toe
HP:0003202Skeletal muscle atrophyDiagnostic criterion
HP:0000963Thin skin
Occasional (29-5%)
HP:0001654Abnormal heart valve morphology
HP:0004942Aortic aneurysm
HP:0005222Bowel diverticulosis
HP:0030084ClinodactylyDiagnostic criterion
HP:0002636Dilatation of an abdominal artery
HP:0002239Gastrointestinal hemorrhage
HP:0031368Intestinal perforation
HP:0030771Mallet fingerDiagnostic criterion
HP:0001634Mitral valve prolapse
HP:0003326Myalgia
HP:0010741Pedal edemaDiagnostic criterion
HP:0003477Peripheral axonal neuropathyDiagnostic criterion
HP:0011891Post-partum hemorrhage
HP:0001788Premature rupture of membranes
HP:0002035Rectal prolapseDiagnostic criterion
HP:0005203Spontaneous esophageal perforation
HP:0001297Stroke
HP:0011896Subconjunctival hemorrhage
HP:0000139Uterine prolapseDiagnostic criterion
Very rare (<4-1%)
HP:0001638Cardiomyopathy
HP:0009130Hand muscle atrophyDiagnostic criterion
HP:6001172Increased compartment pressure

Run the differential on the 6 obligate / very frequent terms

Annotation source: 32572181[PMID]_36108117[PMID]_37712068[PMID]_28306229[PMID]

7

Sources for this card