Musculocontractural Ehlers-Danlos syndrome
Synonyms: Adducted thumb-clubfoot syndrome | Distal arthrogryposis with peculiar facies and hydronephrosis | Dündar syndrome | Ehlers-Danlos syndrome, Kosho type | Musculocontractural EDS | mcEDS
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Musculocontractural Ehlers-Danlos syndrome?
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