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Start free with EleplanKyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
ORPHA:1900Clinical subtype
Also called Cutis hyperelastica · EDS VIA · Ehlers-Danlos syndrome type 6A · Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency · Lysyl hydroxylase-deficient EDS · Ocular-scoliotic EDS · kEDS-PLOD1
What it is
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by 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 common features 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. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
10- Abnormal enzyme/coenzyme activity
- Bruising susceptibilityDiagnostic criterion
- Fragile skinDiagnostic criterion
- Hyperextensible skinDiagnostic criterion
- Hypotonia
- Joint hypermobility
- Neonatal hypotoniaDiagnostic criterion
- OsteopeniaDiagnostic criterion
- OsteoporosisDiagnostic criterion
- Thoracic kyphoscoliosis
Common30–79%
11- Atrophic scarsDiagnostic criterion
- Disproportionate tall stature
- EpicanthusDiagnostic criterion
- Generalized joint hypermobilityDiagnostic criterion
- Hip dislocation
- Joint dislocationDiagnostic criterion
- Joint subluxation
- MicrocorneaDiagnostic criterion
- Muscle weakness
- Talipes equinovarusDiagnostic criterion
- Thoracic scoliosis
Sometimes5–29%
33- Abnormal bleeding
- Aortic aneurysm
- Aortic dissection
- Arterial dissection
- Arterial rupture
- Blue scleraeDiagnostic criterion
- Congenital bilateral hip dislocation
- Congenital kyphoscoliosisDiagnostic criterion
and 25 more in this range
Rare1–4%
14- Abnormality of the brachial nerve plexus
- Abnormal pinna morphology
- Abnormal venous morphology
- Congestive heart failure
- Elbow flexion contracture
- High, narrow palateDiagnostic criterion
- Impaired tandem gait
- Peripheral axonal neuropathy
and 6 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.
Gene
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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