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Start free with EleplanX-linked severe syndromic thoracic aortic aneurysm and dissection
ORPHA:622925Malformation syndrome
Also called Meester-Loeys syndrome · X-linked severe syndromic TAAD
What it is
A rare genetic systemic syndrome characterized by early-onset aortic aneurysm (involving the aortic root/ more distal ascending aorta) and dissection. Mild mitral or aortic insufficiency may also be present. Majority of the patients present with variable facial dysmorphism including frontal bossing, hypertelorism, downslanting palpebral fissures, proptosis and malar hypoplasia. Additional clinical features may include joint hypermobility, contractures, and mild skeletal dysplasia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Childhood, Infancy
- Inheritance
- X-linked recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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