arterial tortuosity-bone fragility syndrome
Findings
No curated finding names arterial tortuosity-bone fragility syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood.
Definition from the Mondo Disease Ontology (MONDO:0971179), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset · Antenatal onset · Third trimester onset · Second trimester onset
HPO, annotations 2026-09-02
Features
109 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.
- Aortic tortuosityHPOHP:0006687
- 6 of 6 reported patients
- Arterial tortuosityHPOHP:0005116
- 3 of 3 reported patients
- Bilateral fetal pyelectasisHPOHP:0011129
- 2 of 2 reported patients
- Carotid artery tortuosityHPOHP:0005302
- 3 of 3 reported patients
- Coronary artery aneurysmHPOHP:0030882
- 1 of 1 reported patient
- Multiple prenatal fracturesHPOHP:0005855
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.
- EMILIN1HGNC:19880
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: arterial tortuosity-bone fragility syndrome
- Also called
- EMILIN1-related arterial tortuosity syndrome