A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
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acroosteolysis
MONDO:0007056
multicentric carpo-tarsal osteolysis with or without nephropathy
MONDO:0008152
pacman dysplasia
MONDO:0008175
familial expansile osteolysis
MONDO:0008275
Hutchinson-Gilford progeria syndrome
MONDO:0008310
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
MONDO:0009092