Ehlers-Danlos syndrome, kyphoscoliotic type 1
Findings
No curated finding names Ehlers-Danlos syndrome, kyphoscoliotic type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
Definition from the Mondo Disease Ontology (MONDO:0016002), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
82 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratioHPOHP:0034006
- 15 of 15 reported patients
- Delayed ability to walkHPOHP:0031936
- 6 of 6 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Follicular hyperkeratosisHPOHP:0007502
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 14 of 15 reported patients · Congenital onset
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 70
- Protrusio acetabuliHPOHP:0003179
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblastsHPOHP:6000826
- 10 of 10 reported patients
- Soft skinHPOHP:0000977
- 16 of 16 reported patients
- Thin ribsHPOHP:0000883
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 15 of 16 reported patients
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLOD1HGNC:9081
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Also called
- EDS 6EDS, kyphoscoliotic typeEDS, oculoscoliotic typeEDS6Ehlers-Danlos syndrome kyphoscoliotic typeEhlers-Danlos syndrome, kyphoscoliotic typeEhlers-Danlos syndrome, oculoscoliotic typeEhlers-Danlos syndrome, type 6kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencynevo syndrome