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Ehlers-Danlos syndrome, musculocontractural type

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

Synonyms

  • ATCS
  • CHST14-related EDS
  • CHST14-related Ehlers-Danlos syndrome
  • D4ST1-deficient EDS
  • D4ST1-deficient Ehlers-Danlos syndrome
  • Dundar syndrome
  • EDS, Kosho type
  • EDS, arthrogryposic type
  • EDS, musculocontractural type
  • EDS6B, formerly
  • EDSMC
  • EDSMC1
  • EDSmc
  • Ehlers-Danlos syndrome, Kosho type
  • Ehlers-Danlos syndrome, arthrogryposic type
  • Ehlers-Danlos syndrome, musculocontractural type 1
  • Ehlers-Danlos syndrome, musculocontractural type, 1
  • Ehlers-Danlos syndrome, type VIB, formerly
  • Ehlers-Danlos syndrome, type Vib
  • Ehlers-Danlos syndrome, type Vib, formerly
  • MCEDS
  • adducted thumb clubfoot syndrome
  • adducted thumb, clubfoot, and progressive joint and skin laxity syndrome
  • adducted thumb-club foot syndrome
  • adducted thumb-clubfoot syndrome
  • adducted thumbs Dundar type
  • adducted thumbs-arthrogryposis syndrome, Dundar type
  • arthrogryposis, distal, with peculiar facies and hydronephrosis
  • autosomal recessive adducted thumb-club foot syndrome
  • musculocontractural EDS
  • musculocontractural Ehlers-Danlos syndrome
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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