Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

Kyphoscoliotic Ehlers-Danlos syndrome
Synonyms

EDS VI
Definitions

A rare systemic disease for which two subtypes exist, either related to the gene <i>PLOD1</i> or <i>FKBP22</i>, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.
ID

http://www.orpha.net/ORDO/Orphanet_536545
alternative_term

EDS VI

Ehlers-Danlos syndrome type 6

Kyphoscoliotic EDS

kEDS
definition

A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545
has_age_of_onset

Neonatal
hasDbXref

ICD-10:Q79.6

ICD-11:LD28.1Y

MeSH:C536198

UMLS:C4551497
label

Kyphoscoliotic Ehlers-Danlos syndrome
notation

ORPHA:536545
part_of

http://www.orpha.net/ORDO/Orphanet_98249
prefixIRI

ORDO:Orphanet_536545
prefLabel

Kyphoscoliotic Ehlers-Danlos syndrome
present_in

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_98249
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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