Musculocontractural Ehlers-Danlos syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

Newly diagnosed with
Musculocontractural Ehlers-Danlos syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Zebra CARE Initiative

To bring Charity, Access, Research, and Education (CARE) through and beyond the rare disease, disabled, and medically complex communities for a more inclusive and accessible medical system.

Clinical Trials

For a list of clinical trials in this disease area, please click here.