segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Findings
No curated finding names segmental progressive overgrowth syndrome with fibroadipose hyperplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.
Definition from the Mondo Disease Ontology (MONDO:0017812), read 2026-09-29. CC BY 4.0.
Features
14 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.
- OvergrowthHPOHP:0001548
- Obligate (100% of cases)
- Capillary malformationHPOHP:0025104
- Frequent (30% to 79% of cases)
- HyperostosisHPOHP:0100774
- Frequent (30% to 79% of cases)
- Increased adipose tissueHPOHP:0009126
- Frequent (30% to 79% of cases)
- LipoatrophyHPOHP:0100578
- Frequent (30% to 79% of cases)
- LipomaHPOHP:0012032
- Frequent (30% to 79% of cases)
- Vascular skin abnormalityHPO
Show the remaining 2
- Lower limb asymmetryHPOHP:0100559
- Occasional (5% to 29% of cases)
- PolydactylyHPOHP:0010442
- Occasional (5% to 29% of cases)
Where it sits
- A kind of