multiple symmetric lipomatosis
Findings
No curated finding names multiple symmetric lipomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
Definition from the Mondo Disease Ontology (MONDO:0007908), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Distal sensory impairmentHPOHP:0002936
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- LipodystrophyHPOHP:0009125
- 1 of 1 reported patient
- Multiple lipomasHPOHP:0001012
Show the remaining 10
- Abnormal adipose tissue morphologyHPOHP:0009124
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MFN2HGNC:16877
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
8 names
Resolves to: multiple symmetric lipomatosis
- Also called
- cephalothoracic lipodystrophycervical symmetrical lipomatosisfamilial benign cervical lipomatosisLaunois-Bensaude lipomatosislipodystrophy, cephalothoraciclipomatosis, familial benign cervicalMadelung's Diseasemultiple symmetrical lipomatosis