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Start free with EleplanClassical-like Ehlers-Danlos syndrome type 1
ORPHA:230839Disease
Also called Classical-like EDS type 1 · Ehlers-Danlos syndrome due to tenascin-X deficiency · clEDS type 1
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, 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%
5- Abnormal foot morphologyDiagnostic criterion
- Bruising susceptibilityDiagnostic criterion
- Generalized joint hypermobilityDiagnostic criterion
- Soft skin
- Spontaneous hematomasDiagnostic criterion
Common30–79%
18- Arthralgia
- Back pain
- BrachydactylyDiagnostic criterion
- Broad footDiagnostic criterion
- Fatigue
- Hallux valgusDiagnostic criterion
- Hypotonia
- Multiple joint dislocationDiagnostic criterion
- Muscle weaknessDiagnostic criterion
- Peripheral neuropathy
- Pes planusDiagnostic criterion
- Piezogenic pedal papulesDiagnostic criterion
- Poor wound healing
- Sensory neuropathy
- Short finger
- Short toe
- Skeletal muscle atrophyDiagnostic criterion
- Thin skin
Sometimes5–29%
19- Abnormal heart valve morphology
- Aortic aneurysm
- Bowel diverticulosis
- ClinodactylyDiagnostic criterion
- Dilatation of an abdominal artery
- Gastrointestinal hemorrhage
- Intestinal perforation
- Mallet fingerDiagnostic criterion
and 11 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.
Gene
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.
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