Synonym(s): - EDS VIA - EDS, kyphoscoliotic type - EDS, oculoscoliotic type - Ehlers-Danlos syndrome type 6A - Ehlers-Danlos syndrome, oculoscoliotic type
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
PLOD1	Q02809	153454

- Abnormal gait
- Abnormal scarring / cheloids / hypertrophic scars
- Aortic dissection
- Arterial rupture
- Autosomal recessive inheritance
- Fragility of the eye globe
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Joint dislocation / subluxation
- Kyphosis
- Metabolic anomalies
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Myopia
- Scoliosis

- Glaucoma
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperelastic skin / cutaneous hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Keratoconus / keratoglobus
- Microcornea
- Mucosal / cutaneous hemorrhage
- Retinal detachment
- Retinopathy
- Visual loss / blindness / amblyopia

- Corneal dystrophy
- Talipes-varus / metatarsal varus