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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
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Ehlers-Danlos syndrome, arthrochalasis 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

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

Synonyms

  • AEDS
  • EDS 7A
  • EDS 7B
  • EDS VII
  • EDS VII, mutant procollagen type
  • EDS7A (formerly)
  • EDSARTH1
  • Ehlers-Danlos syndrome type 7
  • Ehlers-Danlos syndrome type 7A (formerly)
  • Ehlers-Danlos syndrome, arthrochalasia type
  • Ehlers-Danlos syndrome, arthrochalasia type, 1
  • Ehlers-Danlos syndrome, type VII
  • Ehlers-Danlos syndrome, type VII, autosomal dominant
  • Ehlers-Danlos syndrome, type VIIA, autosomal dominant
  • arthrochalasia EDS
  • arthrochalasia Ehlers-Danlos syndrome
  • arthrochalasis multiplex congenita
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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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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