Rare Disease Library

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Acquired partial lipodystrophy

Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

Anonychia-onychodystrophy syndrome

Familial partial lipodystrophy, Dunnigan type

Dunnigan syndrome · FPLD2

Familial partial lipodystrophy, Köbberling type

FPLD1 · Familial partial lipodystrophy type 1

LIPE-related familial partial lipodystrophy

FPLD6 · LIPE-related FPLD

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

Nakajo-Nishimura syndrome

Amyotrophy-fat tissue anomaly syndrome · Secondary hypertrophic osteoperiostosis with pernio

PLIN1-related familial partial lipodystrophy

FPLD4 · PLIN1-related FPLD

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

Progeroid and marfanoid aspect-lipodystrophy syndrome