Angioosteohypertrophic syndrome
Therapeutic area
Vascular Medicine
Rare disease
Yes
- Definition
- A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Angioosteohypertrophic syndrome
- Therapeutic area
- Vascular Medicine
- angioosteohypertrophic syndrome
- Klippel Trenaunay syndrome
- Klippel-Trenaunay Syndrome
- Klippel-Trenaunay syndrome
- Klippel-Trenaunay-Weber syndrome
- Klippel-Trenaunay-Weber syndrome, Isolated cases
- Klippel-Trénaunay syndrome
- Klippel-Trénaunay-Weber syndrome
- Weber-Klippel-Trenaunay
- angioosteohypertrophy syndrome
- haemangiectatic hypertrophy
- KTS
- angio-osteohypertrophy syndrome
- Severity
- Severe
- Developmental
- Genetic
- Hereditary
- Syndromic
- Cardiology
- Vascular Medicine
- MONDO ID
- MONDO:0007864
- Parent condition
- MONDO:0002254
Related records
Broader conditions (13)
- Cardiovascular disorder
- Developmental defect during embryogenesis
- Disease
- Disease by body system or component
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Disorder of development or morphogenesis
- Hereditary disease
- Human disease
- Overgrowth syndrome
- Syndromic disease
- Vascular disorder
Trials (9)
- A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
- A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome
- Clinical and Paraclinical Characterization of Osseous Anomalies of the Long Bones of Patients With Klippel Trénaunay Syndrome
- French National Cohort of Children With Port Wine Stain
- Identification of Biomarkers for Patients with Vascular Anomalies
- Lymphatic Anomalies Registry for the Assessment of Outcome Data
- National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
- Safety of the Sonablate HIFU System for the Ablation of Incompetent Veins of the Periphery
- Vascular Anomaly Pathology and Genomics Biopsy Study