Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanDermatosparaxis Ehlers-Danlos syndrome
ORPHA:1901Disease
Also called Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C · Human dermatosparaxis EDS VIIC · dEDS
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
18- Blue sclerae
- Bruising susceptibilityDiagnostic criterion
- Excessive wrinkled skinDiagnostic criterion
- Excessive wrinkling of palmar skinDiagnostic criterion
- Fragile skin
- Gastroesophageal reflux
- Generalized joint hypermobility
- Hernia
- Hiatus hernia
- Hyperextensible skinDiagnostic criterion
- Joint dislocation
- Joint hypermobility
- Osteoporosis
- Postnatal growth retardationDiagnostic criterion
- Skin lacerationDiagnostic criterion
- Subcutaneous hemorrhageDiagnostic criterion
- Thin skin
- Umbilical herniaDiagnostic criterion
Common30–79%
21- Abnormality of the dentitionDiagnostic criterion
- Abnormally lax or hyperextensible skinDiagnostic criterion
- AstigmatismDiagnostic criterion
- Atrophic scarsDiagnostic criterion
- Depressed nasal bridge
- Epicanthus
- Gingival overgrowth
- Hypertrichosis
- Large fontanellesDiagnostic criterion
- Limb undergrowthDiagnostic criterion
- Low-set ears
- Micrognathia
- MyopiaDiagnostic criterion
- Premature birth
- Premature rupture of membranes
- Recurrent fractures
- Scoliosis
- Short footDiagnostic criterion
- Short palmDiagnostic criterion
- Soft, doughy skinDiagnostic criterion
- StrabismusDiagnostic criterion
Sometimes5–29%
11- Congenital diaphragmatic hernia
- Dental crowding
- Downslanted palpebral fissures
- Fatigue
- HirsutismDiagnostic criterion
- Hypodontia
- Motor delayDiagnostic criterion
- OsteopeniaDiagnostic criterion
and 3 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.