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]

• 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]

  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]

  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]

  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]

• Weakness

  The proband was small in size and had prominent skeletal deformities and clinical muscle weakness. These features were not present in her brother, suggesting clinical variability. Mental function was normal in both. Bone histology showed osteopenia. [ncbi.nlm.nih.gov]

  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. [rarediseases.oscar.ncsu.edu]

  There may be some muscle weakness and infants are sometimes described as floppy. Bones also do not form normally and are fragile due to lack of density. Fractures are common. Scoliosis, deformed limbs, and short stature may result. [disorders.eyes.arizona.edu]

• Swelling

  These patients present with hard, painful and warm swellings over long bones which initially may suggest inflammation or osteosarcoma. After a rapid growth period, the size and shape of the callus may remain stable for many years [ 47 ]. [bmcpediatr.biomedcentral.com]

  (d) Photograph documenting the swelling of the right thigh. Reproduced from Am J Hum Genet, Vol 91, Semler O, Garbes L, Keupp K, et al. [osteoporosis.foundation]

• 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]

• Failure to Thrive

  These parameters correspond to generalized failure to thrive and microcephaly. The motor milestones were normal but the patient was unable to run because of his deformities. Mental DQ was assessed as 28. [indianpediatrics.net]

  […] to thrive (in males), long and slender fingers, finger contractures, camptodactyly, duplicate phalanges spatulate, mild learning disabilities, macrocephaly, delayed closure of anterior fontanelle, large fontanelle, frontal bossing, widened sutures, bitemporal [osteoporosis.foundation]

• Visual Impairment

  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]

  The authors 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. [hum-molgen.org]

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

• Visual Impairment

  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]

  The authors 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. [hum-molgen.org]

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

• 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]

• 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]

• Severe Osteoporosis

  (E and F) Generalized osteoporosis with fish mouth vertebra We report a case of OPPG syndrome, with infantile onset of vision loss and severe osteoporosis. [ncbi.nlm.nih.gov]

  (E and F) Generalized osteoporosis with fish mouth vertebra Click here to view We report a case of OPPG syndrome, with infantile onset of vision loss and severe osteoporosis. [pediatricneurosciences.com]

  Reference article, Radiopaedia.org (Accessed on 29 Mar 2023) https://doi.org/10.53347/rID-33521 Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. [radiopaedia.org]

• Small Head

  […] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Microphthalmia Abnormally small eyeball 0000568 Muscular hypotonia Low or weak muscle tone 0001252 Osteoporosis 0000939 [rarediseases.info.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]

  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]

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]