JMP syndrome (DOID:0050553)
Alliance: disease page
Synonyms: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
Alt IDs: OMIM:256040, ORDO:324999
Definition: A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.