X-linked Ehlers-Danlos syndrome
Findings
No curated finding names X-linked Ehlers-Danlos syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.
Definition from the Mondo Disease Ontology (MONDO:0010586), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Bruising susceptibilityHPOHP:0000978
- Very frequent (80% to 99% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Very frequent (80% to 99% of cases)
- HerniaHPOHP:0100790
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- Very frequent (80% to 99% of cases)
- Inguinal herniaHPOHP:0000023
- Very frequent (80% to 99% 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.
- FLNAHGNC:3754
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: X-linked Ehlers-Danlos syndrome
- Also called
- EDS VEhlers-Danlos syndrome type 5Ehlers-Danlos syndrome, X-linked