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Start free with EleplanKyphoscoliotic Ehlers-Danlos syndrome
ORPHA:536545Disease
Also called Ehlers-Danlos syndrome type 6 · Kyphoscoliotic EDS · kEDS · EDS VI
What it is
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.
Key facts
- Age of onset
- Antenatal, Neonatal
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)Ehlers-Danlos syndrome
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessiveEhlers-Danlos syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
15- Abnormal sternum morphologyDiagnostic criterion
- Atypical scarring of skin
- Bruising susceptibilityDiagnostic criterion
- Congenital kyphoscoliosisDiagnostic criterion
- Delayed gross motor development
- Downslanted palpebral fissures
- Epicanthus
- Fragile skinDiagnostic criterion
- Hyperextensible skinDiagnostic criterion
- HypermetropiaDiagnostic criterion
- Joint dislocationDiagnostic criterion
- Low-set ears
- Neonatal hypotoniaDiagnostic criterion
- Soft, doughy skin
- Synophrys
Sometimes5–29%
32- Abnormal foot morphology
- Abnormality of the hand
- Antenatal intracerebral hemorrhage
- Arachnodactyly
- Arterial rupture
- Blue scleraeDiagnostic criterion
- Cerebral hemorrhage
- Congenital hip dislocation
and 24 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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