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Start free with EleplanMusculocontractural Ehlers-Danlos syndrome
ORPHA:2953Disease
Also called Adducted thumb-clubfoot syndrome · Distal arthrogryposis with peculiar facies and hydronephrosis · Dündar syndrome · Ehlers-Danlos syndrome, Kosho type · Musculocontractural EDS · mcEDS
What it is
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.
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%
34- Abnormal bleeding
- Abnormality of the cervical spine
- Abnormal pinna morphology
- Abnormal sternum morphologyDiagnostic criterion
- Arthrogryposis multiplex congenitaDiagnostic criterion
- Atrophic scarsDiagnostic criterion
- Blue scleraeDiagnostic criterion
- Bruising susceptibilityDiagnostic criterion
- Congenital contractureDiagnostic criterion
- CryptorchidismDiagnostic criterion
- Decreased muscle mass
- Decreased palmar creases
- Delayed gross motor development
- Disproportionate tall stature
- Downslanted palpebral fissuresDiagnostic criterion
- Dysesthesia
- Generalized joint hypermobility
- High palateDiagnostic criterion
- Hyperextensible skinDiagnostic criterion
- HypertelorismDiagnostic criterion
- Large fontanellesDiagnostic criterion
- Long philtrumDiagnostic criterion
- Macrotia
- Muscle weakness
- Narrow mouth
- Posteriorly rotated earsDiagnostic criterion
- Prominent nasolabial fold
- Protruding ear
- Recurrent joint dislocationDiagnostic criterion
- ScoliosisDiagnostic criterion
- Short noseDiagnostic criterion
- Slender fingerDiagnostic criterion
- Subcutaneous hemorrhageDiagnostic criterion
- Thin upper lip vermilionDiagnostic criterion
Common30–79%
20- Abnormal foot morphologyDiagnostic criterion
- AstigmatismDiagnostic criterion
- Bladder stonesDiagnostic criterion
- Cervical kyphosis
- Colonic diverticulaDiagnostic criterion
- ConstipationDiagnostic criterion
- Excessive wrinkling of palmar skinDiagnostic criterion
- Fragile skinDiagnostic criterion
- KyphoscoliosisDiagnostic criterion
- MicroretrognathiaDiagnostic criterion
- Myopathy
- MyopiaDiagnostic criterion
- Ocular hypertension
- Recurrent skin infections
- Redundant skin
- Retinal detachment
- StrabismusDiagnostic criterion
- Talipes equinovarusDiagnostic criterion
- Tapered fingerDiagnostic criterion
- Thoracic lordosis
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.
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