They presented in infancy with visual impairment and psychomotor retardation. [ncbi.nlm.nih.gov]

We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss. [bone-abstracts.org]

You are here Search For A Disorder Clinical Characteristics Ocular Features: Retrolental masses often present at birth have been mistaken for retinoblastomas. [disorders.eyes.arizona.edu]

• Short Stature

  The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. [ncbi.nlm.nih.gov]

  stature/skeletal dysplasia (97.9% **) WES vision disorders (97.9% **) ** % of the coding region of this gene has a coverage of >20x. [order.radboudumc.nl]

  From Genetics associated with mutations in LRP5 gene ( low density lipoprotein receptor-related protein-5) Clinical-manifestations short stature osteoporosis spontaneous fractures kyphoscoliosis hyperextensible joints microcephaly normal intelligence [anvita.info]

  Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. [orpha.net]

  Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. [uniprot.org]

• Disability

  This syndrome can lead to severe disability and chronic bone pain. [tandfonline.com]

  KEYWORDS: Intellectual disability, osteoporosis, pseudoglioma Osteoporosis pseudoglioma (OPPG) syndrome is a rare autosomal recessive condition characterized by intellectual disability, osteoporosis of bones, and eye abnormalities. [ncbi.nlm.nih.gov]

  This syndrome can cause severe disability and chronic bone pain. The problem with the vision can be evident at the birth or in early infancy. [mybiosource.com]

  Keywords: Intellectual disability, osteoporosis, pseudoglioma How to cite this article: Gowda VK, Vegda H, Shivappa SK, Benakappa N. Osteoporosis pseudoglioma syndrome. [pediatricneurosciences.com]

• Falling

  We report, a 14-year-old female child presented with walking difficulty with frequent falls followed by deformity of left leg. On examination, bilateral micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment, and atrophic irises. [ncbi.nlm.nih.gov]

  It is also important to try to avoid falling down. Falls are the number one cause of fractures in older adults. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases [medlineplus.gov]

  Community External News Link Clinical Trials CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. [rareshare.org]

  Ancillary treatments and support: Low vision evaluations and mobility training are of more than the usual importance in this disorder for obstacle avoidance and prevention of falls. [wohproject.org]

• Barrel Chest

  Showing of 23 | Percent of people who have these symptoms is not available through HPO Absent anterior chamber of the eye 0008037 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Blindness 0000618 Cataract Clouding of the [rarediseases.info.nih.gov]

• Hypertension

  rechecking bone density is not at all like checking blood pressure during treatment of high blood pressure (hypertension). Routine bone density testing during treatment may not be helpful. [medicinenet.com]

• Pruritus

  The flashlamp-pumped pulse dye laser has been reported to reduce pruritus and erythema and can flatten lesions. It has also been described that recalcitrant excessive granulation tissue could be treated with photodynamic therapy. [osteoporosis.foundation]

• Hearing Impairment

  / blindness > Osteoporosis-pseudoglioma syndrome (OPPG) This product is also part of the following panels: WES hearing impairment (97.9% **) WES Mendelian inherited disorders (97.9% **) WES renal disorders (97.9% **) WES short stature/skeletal dysplasia [order.radboudumc.nl]

  There is also intellectual and speech delay, short stature, but no hearing impairment. His mother is currently 5 months pregnant and has been counselled that future children have a 25% chance of being affected with OPS. [bjo.bmj.com]

• Osteoporosis

  Keywords : Osteoporosis-pseudoglioma syndrome, Low-density lipoprotein receptor-related protein 5, Osteoporosis [em-consulte.com]

  […] receptor related protein 5 gene (LRP5) cause autosomal recessive osteoporosis-pseudoglioma syndrome (OPPG). [hum-molgen.org]

  KEYWORDS: Congenital retinal detachment; LRP5 gene; LRP5 mutations; Wnt pathway; osteoporosis pseudoglioma syndrome (OPPG) [ncbi.nlm.nih.gov]

  Nature 2003;423:34955.[11] Ai M, Heeger S, Bartels CF, et al., The Osteoporosis-Pseudoglioma Collabo-rative Group. Clinical and molecular ndings in osteoporosis-pseudogliomasyndrome. [docslide.com.br]

  […] accrual and eye development. 61 57 6 Gong Y...Osteoporosis-Pseudoglioma Syndrome Collaborative Group 11719191 2001 3 Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 6 54 61 Ai M...Osteoporosis-Pseudoglioma Collaborative Group 16252235 [malacards.org]

• Fracture

  At 1 year of age, the elder sister had low impact bone fractures, and further evaluation identified severe osteopenia and multiple spinal compression fractures. [ncbi.nlm.nih.gov]

  (C) Fracture of shaft of left femur and severe thinning of bones. (D) Bowing of tibia with fracture of lower end of shaft of femur. [pediatricneurosciences.com]

  He sufferedhis rst fracture at the age of six and subsequently experiencedsix additional fractures of tibia and bula, and one fracture of thewrist since then. [docslide.com.br]

• Back Pain

  At the age of 5 years and 10 months, she had acute back pain and was diagnosed with multiple vertebral compression fractures and severe osteoporosis (lumbar spine BMD Z-score −3.8). [nature.com]

  Later he developed back pain and an osteoporotic fracture in the T7 vertebra (Figure 1 ). Which therapy is suggested to prevent additional fractures? Figure 1 Spine radiograph demonstrating an osteoporosis-related T7 vertebral fracture. [ped-rheum.biomedcentral.com]

  Fractures of the spine (vertebra) can cause severe "band-like" pain that radiates from the back to the sides of the body. [medicinenet.com]

• Muscle Hypotonia

  Gene LRP5 gene, 11q13.1 (OMIM gene/locus number *603506 ) Phenotype Blindness, microphthalmia, vitreoretinal abnormalities, cataract, phthisis bulbi, absent anterior eye chamber, iris atrophy, pseudoglyoma, muscle hypotonia, obesity, mental retardation [iofbonehealth.org]

  Gene LRP5 gene, 11q13.1 (OMIM gene/locus number *603506) Phenotype Blindness, microphthalmia, vitreoretinal abnormalities, cataract, phthisis bulbi, absent anterior eye chamber, iris atrophy, pseudoglyoma, muscle hypotonia, obesity, mental retardation [osteoporosis.foundation]

• Suggestibility

  The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries. [ncbi.nlm.nih.gov]

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

• Amenorrhea

  (loss of the menstrual period) in young women is associated with low estrogen and osteoporosis; amenorrhea can occur in women who undergo extremely vigorous exercise training and in women with very low body fat (for example, women with anorexia nervosa [medicinenet.com]

We conclude that early detection of LRP5 mutations is important for initiation of treatment of reduced bone density in the patients and their carrier relatives. [ncbi.nlm.nih.gov]

However, bisphosphonates cannot be considered as an ideal treatment for treatment of OPPG in some patients. Streeten et al. reported fractures in three of nine OPPG patients with low-normal hip areal BMD after treatment with bisphosphonates (12). [brieflands.com]

FEVR, LRP5 5 2018 Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. [allie.dbcls.jp]

[…] childhood osteoporosis and congenital blindness for which new treatments are needed. [clinicaltrials.gov]

Early identification of the underlying cause and its genetic basis helps initiate possible treatment, delineate prognosis, and identify risks for future pregnancies. [ncbi.nlm.nih.gov]

Diagnosis and Prognosis: This condition requires ophthalmologic, pediatric, and orthopedic collaboration for diagnosis. Orthopedic repair is indicated for fractures and scoliosis. [disorders.eyes.arizona.edu]

[…] testing related to Osteoporosis-pseudoglioma syndrome: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests * Osteoporosis & Bone Health: Home Testing: o Home Osteoporosis Tests o Home Bone Loss Tests Prognosis [checkorphan.org]

PROGNOSIS: Long term follow-up is lacking in this rare disorder. However, repeated fractures can lead to deformity disabilities. [wohproject.org]

Etiology LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype ( 12579474 ) References Audrey Koay M, Brown MA. [humpath.com]

While several genes have been identified so far related to microphthalmia, the genetic etiology of the disease has not been fully understood because of genetic heterogeneity observed in this disease. [sparrho.com]

Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ). The documents contained in this web site are presented for information purposes only. [orpha.net]

Summary Epidemiology The estimated prevalence is 1/2 000 000. [orpha.net]

On this page: Article: Epidemiology Pathology Radiographic features References This disease is encountered in approximately 1 in 2 million births. [radiopaedia.org]

Epidemiology The estimated prevalence is 1/2 000 000. [rareguru.com]

The book is structured such that, in the first section, an overview is provided on what is meant by the terms bone health and osteoporosis and includes key areas such as epidemiology, genetics and the impact of non-nutritional exogenous factors influencing [books.google.com]

Identification of the Wnt/beta-catenin pathway is a breakthrough in the elucidation of pathophysiological mechanisms affecting bone tissue and suggests new treatment targets for patients with osteoporosis or specific malignant conditions such as myeloma [ncbi.nlm.nih.gov]

Identification of the Wnt/ beta-catenin pathway is a breakthrough in the elucidation of pathophysiological mechanisms affecting bone tissue and suggests new treatment targets for patients with osteoporosis or specific malignant conditions such as myeloma [wikigenes.org]

[…] blindness in Mexico, Mexico, Mexico Mariana Escalante-Castañón Genetics, Association to prevent blindness in Mexico, Mexico, Mexico Cristina Villanueva-Mendoza Genetics, Association to prevent blindness in Mexico, Mexico, Mexico Footnotes Commercial [iovs.arvojournals.org]

New Royal Society of Chemistry, 2003 - 755 من الصفحات Nutritional Aspects of Bone Health provides an in-depth review of the role of diet in the development and maintenance of bone health throughout the lifecycle, and prevention of osteoporosis in later [books.google.com]

Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis. [ncbi.nlm.nih.gov]

The genetic mutation results in the prevention of the normal production of the protein or results in the production of nonfunctional protein. [mybiosource.com]

Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. 1. [pediatricneurosciences.com]