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Generalized osteoporosis

MedGen UID:
1639139
Concept ID:
C4551680
Disease or Syndrome
Synonyms: Generalised osteoporosis; Generalised osteoporosis with pathologic fractures; Generalized osteoporosis with pathologic fractures
 
HPO: HP:0040160

Term Hierarchy

Conditions with this feature

Hutchinson-Gilford syndrome
MedGen UID:
46123
Concept ID:
C0033300
Disease or Syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 14.5 years.
Winchester syndrome
MedGen UID:
98152
Concept ID:
C0432289
Disease or Syndrome
Winchester syndrome (WNCHRS) presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007). Reviews Winter (1989) provided a review of Winchester syndrome. De Vos et al. (2019) reviewed Winchester syndrome, Frank-Ter Haar syndrome (249420), and MONA, tabulating the clinical features of 63 reported patients and noting significant overlap, including craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. Because the protein products of all 3 causative genes (MMP14; SH3PXD2B, 613293; MMP2, 120360) are involved in collagen remodeling, the authors suggested grouping them together in a revised nosologic classification, designated 'defective collagen-remodeling spectrum (DECORS).'
Classic homocystinuria
MedGen UID:
199606
Concept ID:
C0751202
Disease or Syndrome
Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ? or only one ? of the systems can be involved; expressivity is variable for all of the clinical signs. It is not unusual for a previously asymptomatic individual to present in adult years with only a thromboembolic event that is often cerebrovascular. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is usually milder than the non-responsive variant. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6-non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis.
Primrose syndrome
MedGen UID:
162911
Concept ID:
C0796121
Disease or Syndrome
Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.
Chromosome 2q32-q33 deletion syndrome
MedGen UID:
436765
Concept ID:
C2676739
Disease or Syndrome
SATB2-associated syndrome (SAS) is a multisystem disorder characterized by significant neurodevelopmental compromise with limited to absent speech, behavioral issues, and craniofacial anomalies. All individuals described to date have manifest developmental delay / intellectual disability, with severe speech delay. Affected individuals often have hypotonia and feeding difficulties in infancy. Behavioral issues may include autistic features, hyperactivity, and aggressiveness. Craniofacial anomalies may include palatal abnormalities (cleft palate, high-arched palate, and bifid uvula), micrognathia, and abnormal shape or size of the upper central incisors. Less common features include skeletal anomalies (osteopenia, pectus deformities, kyphosis/lordosis, and scoliosis), growth restriction, strabismus/refractive errors, congenital heart defects, genitourinary anomalies, and epilepsy. While dysmorphic features have been described in individuals with this condition, these features are not typically distinctive enough to allow for a clinical diagnosis of SAS.
Osteogenesis imperfecta type 12
MedGen UID:
462783
Concept ID:
C3151433
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).
Spondyloepimetaphyseal dysplasia, Maroteaux type
MedGen UID:
463613
Concept ID:
C3159322
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Larsen-like syndrome, B3GAT3 type
MedGen UID:
480034
Concept ID:
C3278404
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.
Avascular necrosis of femoral head, primary, 1
MedGen UID:
1639295
Concept ID:
C4551562
Disease or Syndrome
Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24. Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children.
Osteogenesis imperfecta, type 18
MedGen UID:
1635201
Concept ID:
C4693736
Disease or Syndrome
Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Professional guidelines

PubMed

Raterman HG, Lems WF
Drugs Aging 2019 Dec;36(12):1061-1072. doi: 10.1007/s40266-019-00714-4. PMID: 31541358Free PMC Article
Korczowska I, Olewicz-Gawlik A, Trefler J, Hrycaj P, Krzysztof Łacki J
Clin Rheumatol 2008 May;27(5):565-72. Epub 2007 Oct 2 doi: 10.1007/s10067-007-0747-2. PMID: 17909741
Joffe I, Epstein S
Semin Arthritis Rheum 1991 Feb;20(4):256-72. doi: 10.1016/0049-0172(91)90021-q. PMID: 2042057

Recent clinical studies

Etiology

Stefania S, Rotondo C, Mele A, Trotta A, Cantatore FP, Corrado A
Postgrad Med J 2023 Aug 22;99(1175):976-984. doi: 10.1093/postmj/qgad013. PMID: 36841226
Davey-Ranasinghe N, Deodhar A
Curr Opin Rheumatol 2013 Jul;25(4):509-16. doi: 10.1097/BOR.0b013e3283620777. PMID: 23719363
Haugeberg G, Ørstavik RE, Kvien TK
Curr Opin Rheumatol 2003 Jul;15(4):469-75. doi: 10.1097/00002281-200307000-00016. PMID: 12819477
Gennari C, Martini G, Nuti R
Aging (Milano) 1998 Jun;10(3):214-24. doi: 10.1007/BF03339655. PMID: 9801731
Henderson NK, Sambrook PN
Curr Opin Rheumatol 1996 Jul;8(4):365-9. doi: 10.1097/00002281-199607000-00015. PMID: 8864590

Diagnosis

Regev M, Pode-Shakked B, Jacobson JM, Raas-Rothschild A, Goldstein DB, Anikster Y
Eur J Med Genet 2019 Jan;62(1):35-38. Epub 2018 Apr 23 doi: 10.1016/j.ejmg.2018.04.015. PMID: 29698804
Vis M, Güler-Yüksel M, Lems WF
Osteoporos Int 2013 Oct;24(10):2541-53. Epub 2013 Jun 18 doi: 10.1007/s00198-013-2334-5. PMID: 23775419
Davey-Ranasinghe N, Deodhar A
Curr Opin Rheumatol 2013 Jul;25(4):509-16. doi: 10.1097/BOR.0b013e3283620777. PMID: 23719363
Quek ST, Peh WC
Semin Musculoskelet Radiol 2002 Sep;6(3):197-206. doi: 10.1055/s-2002-36717. PMID: 12541197
Joffe I, Epstein S
Semin Arthritis Rheum 1991 Feb;20(4):256-72. doi: 10.1016/0049-0172(91)90021-q. PMID: 2042057

Therapy

Stefania S, Rotondo C, Mele A, Trotta A, Cantatore FP, Corrado A
Postgrad Med J 2023 Aug 22;99(1175):976-984. doi: 10.1093/postmj/qgad013. PMID: 36841226
Vis M, Güler-Yüksel M, Lems WF
Osteoporos Int 2013 Oct;24(10):2541-53. Epub 2013 Jun 18 doi: 10.1007/s00198-013-2334-5. PMID: 23775419
Davey-Ranasinghe N, Deodhar A
Curr Opin Rheumatol 2013 Jul;25(4):509-16. doi: 10.1097/BOR.0b013e3283620777. PMID: 23719363
Henderson NK, Sambrook PN
Curr Opin Rheumatol 1996 Jul;8(4):365-9. doi: 10.1097/00002281-199607000-00015. PMID: 8864590
Joffe I, Epstein S
Semin Arthritis Rheum 1991 Feb;20(4):256-72. doi: 10.1016/0049-0172(91)90021-q. PMID: 2042057

Prognosis

Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD
Orphanet J Rare Dis 2018 Apr 4;13(1):47. doi: 10.1186/s13023-018-0795-5. PMID: 29618366Free PMC Article
Singh D, Ferrero A, Rose B, Goldberg A, Cullen N
Foot Ankle Spec 2016 Jun;9(3):218-26. Epub 2015 Oct 12 doi: 10.1177/1938640015609986. PMID: 26459365
Haugeberg G, Ørstavik RE, Kvien TK
Curr Opin Rheumatol 2003 Jul;15(4):469-75. doi: 10.1097/00002281-200307000-00016. PMID: 12819477
Joffe I, Epstein S
Semin Arthritis Rheum 1991 Feb;20(4):256-72. doi: 10.1016/0049-0172(91)90021-q. PMID: 2042057
Wheeler DA, Edmondson HA, Reynolds TB
Am J Clin Pathol 1986 Jan;85(1):6-12. doi: 10.1093/ajcp/85.1.6. PMID: 3000165

Clinical prediction guides

Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD
Orphanet J Rare Dis 2018 Apr 4;13(1):47. doi: 10.1186/s13023-018-0795-5. PMID: 29618366Free PMC Article
Okano K, Aoyagi K, Enomoto H, Osaki M, Chiba K, Yamaguchi K
J Bone Miner Metab 2014 May;32(3):312-6. Epub 2013 Aug 7 doi: 10.1007/s00774-013-0501-6. PMID: 23921834
Solomon DH, Finkelstein JS, Shadick N, LeBoff MS, Winalski CS, Stedman M, Glass R, Brookhart MA, Weinblatt ME, Gravallese EM
Arthritis Rheum 2009 Jun;60(6):1624-31. doi: 10.1002/art.24551. PMID: 19479876Free PMC Article
Kanterewicz E, Yañez A, Pérez-Pons A, Codony I, Del Rio L, Díez-Pérez A
Osteoporos Int 2002 Oct;13(10):824-8. doi: 10.1007/s001980200114. PMID: 12378372
Joffe I, Epstein S
Semin Arthritis Rheum 1991 Feb;20(4):256-72. doi: 10.1016/0049-0172(91)90021-q. PMID: 2042057

Recent systematic reviews

Cortés-Martín J, Díaz-Rodríguez L, Piqueras-Sola B, Rodríguez-Blanque R, Bermejo-Fernández A, Sánchez-García JC
Int J Environ Res Public Health 2020 Aug 25;17(17) doi: 10.3390/ijerph17176174. PMID: 32854429Free PMC Article

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