Preferred Name |
kyphoscoliotic Ehlers-Danlos syndrome |
|
Synonyms |
kyphoscoliotic EDS EDS VI |
|
Definitions |
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly 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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0034024 |
|
has_exact_synonym |
kyphoscoliotic EDS EDS VI |
|
IAO_0000233 | ||
label |
kyphoscoliotic Ehlers-Danlos syndrome |
|
prefixIRI |
MONDO:0034024 |
|
prefLabel |
kyphoscoliotic Ehlers-Danlos syndrome |
|
textual definition |
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly 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. |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/MONDO_0034024 | EFO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0034024 | MONDO | SAME_URI | |
http://www.ebi.ac.uk/efo/EFO_0700133 | EFO | LOOM | |
http://www.orpha.net/ORDO/Orphanet_536545 | ORDO | LOOM |