hemihyperplasia-multiple lipomatosis syndrome
Findings
No curated finding names hemihyperplasia-multiple lipomatosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
Definition from the Mondo Disease Ontology (MONDO:0017177), read 2026-09-29. CC BY 4.0.
Features
19 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)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Frequent (30% to 79% of cases)
- MacrodactylyHPOHP:0004099
- Frequent (30% to 79% of cases)
- 2-4 toe syndactylyHPOHP:0010714
- Occasional (5% to 29% of cases)
- Abnormal venous morphologyHPOHP:0002624
- Occasional (5% to 29% of cases)
- Abnormality of the lymphatic systemHPOHP:0100763
- Occasional (5% to 29% of cases)
- Enlarged kidney
Show the remaining 7
- Multiple lipomasHPOHP:0001012
- Occasional (5% to 29% of cases)
- NevusHPOHP:0003764
- Occasional (5% to 29% of cases)
- Ovarian serous cystadenomaHPOHP:0012887
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- Seborrheic dermatitisHPOHP:0001051
- Occasional (5% to 29% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: hemihyperplasia-multiple lipomatosis syndrome
- Also called
- HHML