raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1901

Dermatosparaxis Ehlers-Danlos syndrome

Synonyms: Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C · Human dermatosparaxis EDS VIIC · dEDS

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

A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enDermatosparaxis Ehlers-Danlos syndromeDermatosparaxis EDS · Ehlers-Danlos syndrome type 7C · Human dermatosparaxis EDS VIIC · dEDS
frSyndrome d'Ehlers-Danlos type dermatosparaxisEDS VIIC · SED VIIC · SED dermatosparaxique · SEDd · Syndrome d'Ehlers-Danlos type 7C
deEhlers-Danlos-Syndrom, Dermatosparaxis TypEDS VII C · Ehlers-Danlos-Syndrom Typ 7C · Humane Dermatosparaxie EDS VIIC · dEDS
esSíndrome de Ehlers-Danlos dermatosparaxisSED VIIC dermatosparaxis humana · SED dermatosparaxis · Síndrome de Ehlers-Danlos tipo 7C
itSindrome di Ehlers-Danlos con dermatosparassiaEDS tipo dermatosparassia · EDS tipo dermatosparassia umana VIIC · Sindrome di Ehlers-Danlos, tipo 7C · dEDS
nlSyndroom van Ehlers-Danlos, dermatosparaxis-typeEDS, dermatosparaxis-type · Humaan dermatosparaxis EDS VIIC · Syndroom van Ehlers-Danlos type 7C · dEDS
ptSíndrome de dermatosparaxia Ehlers-DanlosEDS VII C · Síndrome Ehlers-Danlos tipo dermatosparaxis
plZespół Ehlersa i Danlosa z dermatosparaxis (skórny)= en
csEhlersův-Danlosův syndrom, typ dermatosparaxisEDS VIIC · Ehlersův-Danlosův syndrom, typ 7C · Ehlers-Danlosův syndrom, typ dermatosparaxis · Ehlers-Danlosův syndrom, typ 7C
ukСиндром Елерса-Данлоса, дерматоспараксисdEDS · EDS з dermatosparaxis · Синдром Елерса-Данлоса, тип 7С · Дерматоспаракс людини EDS VIIC
zh皮肤脆裂症型Ehlers-Danlos综合征人皮肤脆裂症型EDS VIIIC
trDermatosparaxis Ehlers-Danlos sendromuDEDS · Ehlers-Danlos sendromu tip 7C · İnsan dermatosparaksisi EDS VIIC

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM225410Evalidated
ICD-10Q79.6NTBTattributedvalidated
ICD-11LD28.1YNTBTindexvalidated
MONDO0009161Evalidated
UMLSC2700425Evalidated
GARD2089Evalidated

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

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ADAMTS2Disease-causing germline mutation(s) inAssessedHGNC:218ENSG000000871166045395q35.3ADAM metallopeptidase with thrombospondin type 1 motif 210417273[PMID]
ADAMTSL2Disease-causing germline mutation(s) inAssessedHGNC:14631ENSG000001978596122779q34.2ADAMTS like 233369194[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families15 casesWorldwideCase(s)Validated26765342[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_26765342[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

50 annotations · validated 2026-04-14
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0000592Blue sclerae
HP:0000978Bruising susceptibilityDiagnostic criterion
HP:0007392Excessive wrinkled skinDiagnostic criterion
HP:0007605Excessive wrinkling of palmar skinDiagnostic criterion
HP:0001030Fragile skin
HP:0002020Gastroesophageal reflux
HP:0002761Generalized joint hypermobility
HP:0100790Hernia
HP:0002036Hiatus hernia
HP:0000974Hyperextensible skinDiagnostic criterion
HP:0001373Joint dislocation
HP:0001382Joint hypermobility
HP:0000939Osteoporosis
HP:0008897Postnatal growth retardationDiagnostic criterion
HP:6001125Skin lacerationDiagnostic criterion
HP:0001933Subcutaneous hemorrhageDiagnostic criterion
HP:0000963Thin skin
HP:0001537Umbilical herniaDiagnostic criterion
Frequent (79-30%)
HP:0000164Abnormality of the dentitionDiagnostic criterion
HP:0008067Abnormally lax or hyperextensible skinDiagnostic criterion
HP:0000483AstigmatismDiagnostic criterion
HP:0001075Atrophic scarsDiagnostic criterion
HP:0005280Depressed nasal bridge
HP:0000286Epicanthus
HP:0000212Gingival overgrowth
HP:0000998Hypertrichosis
HP:0000239Large fontanellesDiagnostic criterion
HP:0009826Limb undergrowthDiagnostic criterion
HP:0000369Low-set ears
HP:0000347Micrognathia
HP:0000545MyopiaDiagnostic criterion
HP:0001622Premature birth
HP:0001788Premature rupture of membranes
HP:0002757Recurrent fractures
HP:0002650Scoliosis
HP:0001773Short footDiagnostic criterion
HP:0004279Short palmDiagnostic criterion
HP:0001027Soft, doughy skinDiagnostic criterion
HP:0000486StrabismusDiagnostic criterion
Occasional (29-5%)
HP:0000776Congenital diaphragmatic hernia
HP:0000678Dental crowding
HP:0000494Downslanted palpebral fissures
HP:0012378Fatigue
HP:0001007HirsutismDiagnostic criterion
HP:0000668Hypodontia
HP:0001270Motor delayDiagnostic criterion
HP:0000938OsteopeniaDiagnostic criterion
HP:0000520Proptosis
HP:0002035Rectal prolapse
HP:0000278Retrognathia

Run the differential on the 12 obligate / very frequent terms

Annotation source: 26765342[PMID]_39641471[PMID]_28306229[PMID]

7

Sources for this card