lipodystrophy due to peptidic growth factors deficiency
Findings
No curated finding names lipodystrophy due to peptidic growth factors deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).
Definition from the Mondo Disease Ontology (MONDO:0009312), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Lack of skin elasticity
Show the remaining 16
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- Pes planusHPOHP:0001763
- Very frequent (80% to 99% of cases)
- Reduced subcutaneous adipose tissueHPOHP:0003758
- Very frequent (80% to 99% of cases)
- Thickened skinHPOHP:0001072
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- Abnormal circulating lipid concentrationHPOHP:0003119
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: lipodystrophy due to peptidic growth factors deficiency
- Also called
- combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiencyHoepffner-Dreyer-Reimers syndromeWerner-like syndrome due to combined growth factor deficiency