raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:536545

Kyphoscoliotic Ehlers-Danlos syndrome

Synonyms: Ehlers-Danlos syndrome type 6 · Kyphoscoliotic EDS · kEDS · EDS VI

Type
Disease
Group
Disorder
Age of onset
Antenatal, Neonatal
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enKyphoscoliotic Ehlers-Danlos syndromeEhlers-Danlos syndrome type 6 · Kyphoscoliotic EDS · kEDS · EDS VI
frSyndrome d'Ehlers-Danlos type cyphoscoliotiqueEDS type cyphoscoliotique · SED VI · SED type cyphoscoliotique · SEDk · Syndrome d'Ehlers-Danlos type 6 · Syndrome d'Ehlers-Danlos type oculo-scoliotique
deEhlers-Danlos-Syndrom, kyphoskoliotischer TypEDS VI · EDS, kyphoskoliotisches · Ehlers-Danlos-Syndrom Typ 6 · kEDS
esSíndrome de Ehlers-Danlos cifoescolióticoSED VI · SED cifoescoliótico · SED oculoescoliótico · SED óculo-escoliótico · Síndrome de Ehlers-Danlos tipo 6
itSindrome di Ehlers-Danlos cifoscoliotica
nlKyfoscoliotisch syndroom van Ehlers-DanlosEDS VI · Kyfoscoliotisch EDS · Syndroom van Ehlers-Danlos type 6 · kEDS
ptSíndrome Ehlers-Danlos cifoescoliótico
plZespół Ehlersa i Danlosa z kifoskolioząEhlers-Danlos syndrome type 6
csEhlersův-Danlosův syndrom, kyfoskoliotický typkEDS · EDS VI · EDS, kyfoskoliotický typ · EDS, okuloskoliotický typ · Ehlersův-Danlosův syndrom, typ 6 · Ehlers-Danlosův syndrom, kyfoskoliotický typ · Ehlers-Danlosův syndrom, typ 6
ukКіфосколіотичний синдром Елерса-ДанлосаEDS VI · Синдром Елерса-Данлоса, тип 6 · kEDS · Кіфосколіотичний EDS
zh脊柱后凸畸形埃勒斯-当洛斯综合征Kyphoscoliotic EDS
trKifoskolyotik Ehlers-Danlos sendromukEDS · EDS VI · Kifoskolyotik EDS · Ehlers-Danlos sendromu tip 6

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q79.6NTBTattributedvalidated
ICD-11LD28.1YNTBTindexvalidated
MONDO0034024Evalidated
MeSHC536198Evalidated
UMLSC4551497Evalidated
GARD2083Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:98249Ehlers-Danlos syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases

Children (2):

4

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
FKBP14ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyDisease-causing germline mutation(s) inAssessedHGNC:18625ENSG000001060806145057p14.3FKBP prolyl isomerase 1422265013[PMID]
PLOD1ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyDisease-causing germline mutation(s) inAssessedHGNC:9081ENSG000000834441534541p36.22procollagen-lysine,2-oxoglutarate 5-dioxygenase 115979919[PMID]_20301635[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET_28306225[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

68 annotations · validated 2019-11-14
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0002761Generalized joint hypermobilityDiagnostic criterion
HP:0001252Hypotonia
HP:0002751Kyphoscoliosis
Frequent (79-30%)
HP:0000766Abnormal sternum morphologyDiagnostic criterion
HP:0000987Atypical scarring of skin
HP:0000978Bruising susceptibilityDiagnostic criterion
HP:0008453Congenital kyphoscoliosisDiagnostic criterion
HP:0002194Delayed gross motor development
HP:0000494Downslanted palpebral fissures
HP:0000286Epicanthus
HP:0001030Fragile skinDiagnostic criterion
HP:0000974Hyperextensible skinDiagnostic criterion
HP:0000540HypermetropiaDiagnostic criterion
HP:0001373Joint dislocationDiagnostic criterion
HP:0000369Low-set ears
HP:0001319Neonatal hypotoniaDiagnostic criterion
HP:0001027Soft, doughy skin
HP:0000664Synophrys
Occasional (29-5%)
HP:0001760Abnormal foot morphology
HP:0001155Abnormality of the hand
HP:0007023Antenatal intracerebral hemorrhage
HP:0001166Arachnodactyly
HP:0025019Arterial rupture
HP:0000592Blue scleraeDiagnostic criterion
HP:0001342Cerebral hemorrhage
HP:0001374Congenital hip dislocation
HP:0001558Decreased fetal movement
HP:0001519Disproportionate tall stature
HP:0011968Feeding difficulties
HP:0007502Follicular hyperkeratosis
HP:0001288Gait disturbance
HP:0000365Hearing impairment
HP:0000218High palate
HP:0002827Hip dislocation
HP:0000023Inguinal herniaDiagnostic criterion
HP:0000482Microcornea
HP:0001324Muscle weakness
HP:0000545MyopiaDiagnostic criterion
HP:0000938OsteopeniaDiagnostic criterion
HP:0000767Pectus excavatum
HP:0001763Pes planus
HP:0001058Poor wound healing
HP:0000407Sensorineural hearing impairment
HP:0003834Shoulder dislocation
HP:0003202Skeletal muscle atrophy
HP:0001328Specific learning disability
HP:0010727Spontaneous rupture of the globe
HP:0001762Talipes equinovarusDiagnostic criterion
HP:0000963Thin skin
HP:0001537Umbilical herniaDiagnostic criterion
Very rare (<4-1%)
HP:0000422Abnormality of the nasal bridge
HP:0004942Aortic aneurysm
HP:0003467Atlantoaxial instability
HP:0001647Bicuspid aortic valve
HP:0000015Bladder diverticulum
HP:0000405Conductive hearing impairment
HP:0001651Dextrocardia
HP:0003994Dislocated wrist
HP:0000601Hypotelorism
HP:0004976Knee dislocation
HP:0000276Long face
HP:0000347Micrognathia
HP:0003198Myopathy
HP:0000939OsteoporosisDiagnostic criterion
HP:0000768Pectus carinatum
HP:0002650Scoliosis
HP:0004322Short stature
HP:0100309Subdural hemorrhage

Run the differential on the 3 obligate / very frequent terms

Annotation source: 20301635[PMID]_31132235[PMID]_28306225[PMID]

7

Sources for this card