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

• 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]

• Turkish

  We present three novel homozygous LRP5 mutations found in 3 unrelated Turkish children with consanguineous parents, along with clinical phenotypes and response to treatment with bisphosphonates (bisP). [ncbi.nlm.nih.gov]

  Conclusion: We report three novel LRP5 mutations in 3 Turkish patients with OPPG. [karger.com]

  The mutation was present in the heterozygous state in the patients’ parents and was absent on 100 chromosomes from healthy Turkish controls. [nature.com]

• Collapse

  METHODS: Three children (ages 9 to 11 years) with osteoporosis pseudoglioma syndrome who had multiple vertebral collapse were treated over a 2-year period with intermittent intravenous bisphosphonate infusions (pamidronate in 2, clodronate in 1). [ncbi.nlm.nih.gov]

  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. [ghr.nlm.nih.gov]

• 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]

• Visual Impairment

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

  Most patients with OPPG are blind by 15 years of age; however, this patient’s visual impairment only caused mild functional compromise. [bone-abstracts.org]

  We sequenced the coding exons of LRP5 in 37 probands suspected of having OPPG on the basis of the co-occurrence of severe congenital or childhood-onset visual impairment with bone fragility or osteoporosis recognized by young adulthood. [unboundmedicine.com]

• Hearing Impairment

  impairment (97.9% **) WES Mendelian inherited disorders (97.9% **) WES renal disorders (97.9% **) WES short 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]

  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: Bisphosphonate; Bone; LRP5; OPPG; Osteoporosis-pseudoglioma; Osteoporosis-pseudoglioma syndrome [ncbi.nlm.nih.gov]

• 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]

• Anger

  University, Angers, France c Rheumatology department, Angers Teaching Hospital, 49933 Angers cedex 9, France d Paris Descartes University, Rheumatology A department, Cochin Hospital, APHP, Paris, France e U.V.S.Q University, Biochemistry, hormonology [em-consulte.com]

  University, Angers, Francey department, Angers Teaching Hospital, 49933 Angers cedex 9, Francees University, Rheumatology A department, Cochin Hospital, APHP, Paris, Francersity, Biochemistry, hormonology and molecular genetics department, Ambroise Par [docslide.com.br]

• Chloride Increased

  Clement- Lacroix P, Ai M, Morvan F, Roman-Roman S et al. (2005) Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice. [link.springer.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]

1 Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. ( 30499050 ) 2018 2 Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. ( 28145787 ) Maltese P....Bertelli [malacards.org]

Treatment: Bisphosphonate treatment can improve bone density, and should be started early. The importance of trauma avoidance should be emphasized for all patients. Vitamin D insufficiency should be treated. [wohproject.org]

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]

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. [ncbi.nlm.nih.gov]

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]

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]

Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ). Last updated: 3/7/2006 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

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

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]

Epidemiology The estimated prevalence is 1/2 000 000. [rarediseases.info.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 [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]

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]

[…] mineral density at the lumbar spine (age-appropriate SD score) improved from a mean of -4.5 before treatment to -2.8 after 2 years (P CONCLUSIONS: Intravenous bisphosphonate therapy appears safe and beneficial in patients with this condition and may prevent [ncbi.nlm.nih.gov]

Bisphosphonates allows fracture prevention, the catch-up of bone mineral density and improvement in mobility in children with OPPG. New drugs favoring osteoblast function and osteoclast inhibition are potential candidates in the treatment of OPPG. [tandfonline.com]

These drugs have helped the bone strength in OPPG somewhat but have not prevented all fractures. [bioportfolio.com]