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Ehlers-Danlos syndrome, kyphoscoliotic type 1

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Disease Overview

A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

Synonyms

  • EDS 6
  • EDS 6 (formerly)
  • EDS VI
  • EDS VIA
  • EDS, kyphoscoliotic type
  • EDS, oculoscoliotic type
  • EDS6
  • EDS6A, formerly
  • EDSKSCL1
  • Ehlers-Danlos syndrome kyphoscoliotic type
  • Ehlers-Danlos syndrome oculoscoliotic type
  • Ehlers-Danlos syndrome type 6 (formerly)
  • Ehlers-Danlos syndrome type 6A
  • Ehlers-Danlos syndrome type 6A (formerly)
  • Ehlers-Danlos syndrome, kyphoscoliosis type
  • Ehlers-Danlos syndrome, kyphoscoliotic type
  • Ehlers-Danlos syndrome, kyphoscoliotic type 1
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1
  • Ehlers-Danlos syndrome, ocular-scoliotic type
  • Ehlers-Danlos syndrome, oculoscoliotic type
  • Ehlers-Danlos syndrome, type 6
  • Ehlers-Danlos syndrome, type 6 A
  • Ehlers-Danlos syndrome, type VI
  • Ehlers-Danlos syndrome, type VIA
  • Ehlers-Danlos syndrome, type VIA, formerly
  • Ehlers-Danlos syndrome, type Via
  • Ehlers-Danlos syndrome, type Via, formerly
  • kEDS
  • kyphoscoliotic EDS
  • kyphoscoliotic Ehlers-Danlos syndrome
  • kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
  • nevo 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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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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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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