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Musculocontractural Ehlers-Danlos syndrome
Disease definition
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.
ORPHA:2953
Classification level: Disorder- Synonym(s):
- Adducted thumb-clubfoot syndrome
- Distal arthrogryposis with peculiar facies and hydronephrosis
- Dündar syndrome
- Ehlers-Danlos syndrome, Kosho type
- Musculocontractural EDS
- mcEDS
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q79.6
- ICD-11: LD28.1Y
- OMIM: 601776 615539
- UMLS: -
- MeSH: -
- GARD: 8486
- MedDRA: -
A summary on this disease is available in Español (2019) Français (2019) Italiano (2019) Nederlands (2019)
Detailed information
General public
- Article for general public
- Svenska (2015) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- English (2018) - RMD Open
- Français (2020) - PNDS
- Anesthesia guidelines
- Czech (2019) - Orphananesthesia
- English (2019) - Orphananesthesia
- Español (2019) - Orphananesthesia
- Deutsch (2019) - Orphananesthesia
: produced/endorsed by ERN(s) : produced/endorsed by FSMR(s)Additional information