Osteoporosis-pseudoglioma syndrome
עודכן לאחרונה 18 Aug 2020
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Osteoporosis-pseudoglioma syndrome is a rare condition characterised by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).
תיאור
Osteoporosis-pseudoglioma syndrome is a rare condition characterised by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).
Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumour known as a retinal glioma.
Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
OPPG
Osteogenesis imperfecta, ocular form
Related patient information and medicines
Patient information leaflet
תסמונת שיוגרן
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Patient information leaflet
תסמונת טרנר
תסמונת טרנר מטופל? a genetic condition that בלבד affects girls. The most characteristic features of the syndrome are being short, having certain physical features (detailed below), and ovaries that do not work properly. Ear problems Hearing impairment is common and can be due to persistent (chronic) ea... 'Thinning' of the bones This is also known.
Patient information leaflet
תסמונת זנב הסוס
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Patient information leaflet
צלע צווארית
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Patient information leaflet
אוסטאופורוזיס
אם יש לך אוסטאופורוזיס it means that you have lost some bone material. 'דלדול העצמות (אוסטאופורוזיס) mainly affects older people but it can affect someone of any age. What is osteoporosis. Osteoporosis is a condition that affects bone strength. (The word osteoporosis literally means 'porous bones'). If you have a lot of bone loss then.
Patient information leaflet
תסמונת קליינפלטר
תסמונת קליינפלטר is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY. In adulthood, in addition to the main typical features: There may be problems getting an e... Anxiety and depression may be a problem. 'Thinning' of ה bones (osteoporosis) may develop in young or.
קריאה נוספת והפניות
- Osteoporosis-pseudoglioma syndrome; MedlinePlus, National Library of Medicine.
- Ai M, Heeger S, Bartels CF, Schelling DK; Osteoporosis-Pseudoglioma Collaborative Group. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet. 2005 Nov;77(5):741-53. doi: 10.1086/497706. Epub 2005 Sep 27.
- Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2.
- Levasseur R, Lacombe D, de Vernejoul MC. LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint Bone Spine. 2005 May;72(3):207-14. doi: 10.1016/j.jbspin.2004.10.008.
- Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T. Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177.
- Tuysuz B, Bursali A, Alp Z, Suyugul N, Laine CM, Makitie O. Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. Horm Res Paediatr. 2012;77(2):115-20. doi: 10.1159/000336193. Epub 2012 Mar 23.
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