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Ehlers-Danlos syndrome, kyphoscoliotic type

Orpha number ORPHA1900
Synonym(s) EDS VIA
EDS, kyphoscoliotic type
EDS, oculoscoliotic type
Ehlers-Danlos syndrome type 6A
Ehlers-Danlos syndrome, oculoscoliotic type
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q79.6
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility.


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Detailed information

Summary information
Anesthesia guidelines
  • EN (2013,pdf)
Guidance for genetic testing
  • EN (2012,pdf)
Clinical genetics review
  • EN (2013)
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