Ehlers-Danlos syndrome, arthrochalasia type
Findings
No curated finding names Ehlers-Danlos syndrome, arthrochalasia type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
Definition from the Mondo Disease Ontology (MONDO:0007525), read 2026-09-29. CC BY 4.0.
Features
46 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.
- Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- Very frequent (80% to 99% of cases)
- Congenital bilateral hip dislocationHPOHP:0008780
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- Very frequent (80% to 99% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Very frequent (80% to 99% of cases)
- Hip dislocationHPOHP:0002827
- Very frequent (80% to 99% of cases)
- Hip dysplasiaHPOHP:0001385
- Very frequent (80% to 99% of cases)
Show the remaining 34
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- HerniaHPOHP:0100790
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
- COL1A1HGNC:2197
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- COL1A2HGNC:2198
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Ehlers-Danlos syndrome, arthrochalasia type
- Also called
- EDS VIIEhlers-Danlos syndrome type 7Ehlers-Danlos syndrome, type VII