MASS syndrome
Findings
No curated finding names MASS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.
Definition from the Mondo Disease Ontology (MONDO:0011431), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
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.
- Aortic aneurysmHPOHP:0004942
- 7 of 7 reported patients
- ArachnodactylyHPOHP:0001166
- 4 of 4 reported patients
- Disproportionate tall statureHPOHP:0001519
- 3 of 3 reported patients
- Mitral valve prolapseHPOHP:0001634
- 3 of 3 reported patients
- Dural ectasiaHPOHP:0100775
- 3 of 4 reported patients
- Striae distensaeHPOHP:0001065
- 5 of 7 reported patients
- Pectus carinatumHPOHP:0000768
Where it sits
Other names
1 name
Resolves to: MASS syndrome
- Also called
- MASS phenotype