• When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME. (harvard.edu)
  • Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. (eurospe.org)
  • Pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by a mutation in the matrix metalloproteinase 2 gene. (medscape.com)
  • Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. (medscape.com)
  • In addition to osteolysis of the distal phalanges, these patients have a generalized osseous dysplasla with osteoporosis, premature loss of teeth , short stature and a distinctive facial appearance. (symptoma.com)
  • In the case of long-standing clubbing, bone remodeling can cause osseous resorption at the terminal phalanges of the fingers and toes, which is termed acro-osteolysis. (medscape.com)
  • Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. (medlineplus.gov)
  • Definition A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). (symptoma.com)
  • Osteolysis is understood in medicine as an active dissolution of bone tissue. (photionary.com)
  • In moderation, osteolysis is therefore a physiological process within the framework of normal bone remodeling, which reduces bone tissue that is no longer under load and thus adapts it to its functional requirements. (photionary.com)
  • Many of the disorder's features, such as acro-osteolysis and some of the characteristic facial features, are not present at birth but become apparent in childhood or later. (medlineplus.gov)
  • Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS , and skull deformations. (nih.gov)
  • Hajdu-Cheney syndrome (HCS) or acro-osteolysis is an extremely rare autosomal dominant congenital bone metabolism disorder characterized by excessive abnormalities of the cranial, spinal and facial bone structures, severe progressive resorption (acro-osteolysis) of the distal phalanges and generalized osteoporosis [ 1 , 2 ]. (opendentistryjournal.com)
  • HCS is characterized by craniofacial developmental defects, including platybasia and wormian bones, osteoporosis with fractures, and acro-osteolysis. (nih.gov)
  • Aggravated osteoporosis of the vertebral bodies may lead to compressive fractures of the backbone. (medscape.com)
  • In these forms, osteoporosis could be related to 1) failure to achieve optimal PBM in adolescence, 2) excessive resorption of bone, or 3) failure to adequately replace the resorbed bone through a bone formation deficit. (biomedcentral.com)
  • Acroosteolysis , caused by a disease, consists of two patterns of resorption in adults which are diffuse and bandlike. (wordinfo.info)
  • In the case of long-standing clubbing, bone remodeling can cause osseous resorption at the terminal phalanges of the fingers and toes, which is termed acro-osteolysis. (medscape.com)
  • Pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by a mutation in the matrix metalloproteinase 2 gene. (medscape.com)
  • [ 16 ] Hypertrophy or bony overgrowth predominates in patients with HOA secondary to lung cancer, whereas acro-osteolysis predominates in patients with HOA secondary to cyanotic congenital heart disease. (medscape.com)
  • Many of the disorder's features, such as acro-osteolysis and some of the characteristic facial features, are not present at birth but become apparent in childhood or later. (medlineplus.gov)
  • Idiopathic osteoporosis of childhood or adolescence characterized by normal SCLERA (unlike OSTEOGENESIS IMPERFECTA), Low plasma CALCITROL (1,25-dihydroxycholecalciferol), normal serum CALCIFEDIOL (25-hydroxycholecalciferol), and normal renal function. (nih.gov)
  • Because inadequate acquisition of bone in childhood and adolescence may lead to an increased lifetime risk of osteoporosis and fracture, it is important to recognise whether bone mineral status is affected in children with PO. (biomedcentral.com)
  • The primary forms of osteoporosis in childhood are relatively rare, and some of them are familial or genetically determined (Table 1 ). (biomedcentral.com)
  • There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. (nih.gov)
  • Note the soft-tissue clubbing and acro-osteolysis of the terminal phalanges. (medscape.com)
  • If the same mechanisms were operational in humans, anti-resorptive therapy could correct the bone loss, but not necessarily the acro-osteolysis. (nih.gov)
  • A 22-year old woman with osteoporosis, generalized advanced chronic periodontitis and premature tooth loss was referred to the Postgraduate Clinic of Periodontology, University of Athens-Greece. (opendentistryjournal.com)