ORPHA:79087
Acquired partial lipodystrophy
Also called Barraquer-Simons syndrome, Progressive cephalothoracic lipodystrophy
- Body system
- Skin diseases
- Inheritance pattern
- Multigenic/multifactorial, Not applicable
- Typical age of onset
- Adolescent, Adult, Childhood
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
About this disease
A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.
Definition from Orphanet.
Common signs
- Lipoatrophy
- Hearing impairment
- Intellectual disability
- Seizure
- Autoimmunity
- Myopathy
Learn more
Source: Orphanet (Orphadata), ORPHA:79087. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.