Very frequently present symptoms in 80-99% of the cases: Increased bone mineral density Abnormal form of the vertebral bodies Kyphosis Scoliosis Vertebral body sclerosis Occasionally present symptoms in 5-29% of the cases: Abnormal cortical bone morphology [dovemed.com]

Osteomesopyknosis presents with chronic, low-grade back pain in the thoracic and lumbar regions. Life expectancy is normal. Height and intellect are not affected. Dense diffuse osteosclerosis of axial spine, pelvis and proximal long bones. [radiopaedia.org]

She had presented 6 years ago, at the age of 33, with neck pain. [docksci.com]

OSTEOMESOPYKNOSIS, Datagenno Interactive Research Overview Therapies & Treatments Scientific Articles Laboratories Foundations Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (5) General Ovarian [datagenno.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

• Infertility

  Interactive Research Overview Therapies & Treatments Scientific Articles Laboratories Foundations Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (5) General Ovarian sclerosis Genitourinary Infertility [datagenno.com]

  The signs and symptoms of Osteomesopyknosis may include: Infertility Low back pain Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. [dovemed.com]

  Abnormal cortical bone morphology 0003103 Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Infertility [rarediseases.info.nih.gov]

• Inflammation

  Neonatal onset multisystem inflammatory disease (NOMID) is a rare disorder that causes inflammation and tissue damage primarily affecting the nervous system, skin, and joints. [checkrare.com]

  Inflammation of the bone is indicated by the bursal wall lined by the synovium. [wordsimilarity.com]

  Topical Application of Angelica sinensis Improves Pruritus and Skin Inflammation in Mice with Atopic Dermatitis-Like Symptoms. Journal of Medicinal Food. [academictree.org]

  Additionally, it may cause an inflammation in the periosteum (periostitis) or in the endosteum (osteitis). The lesions involve a mixed pattern with destructive and remodulative processes. [karger.com]

• Pathologist

  The identification of specific tumor types in bone often depends on careful histological examination of soft-tissue components and/or clinical tests available to modern pathologists. [karger.com]

• Arthritis

  As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. Still’s disease was named after an English doctor named George Still, who described the condition in … Previous 1 2 Next Last [checkrare.com]

  Clinically, bone pain, recurrent fractures, back pain, and degenerative arthritis can be presented in ADO. Cranial nerve compression is common in type I ADO. In our case, there was no abnormality in skull X-ray and no symptom except back pain. [synapse.koreamed.org]

  R-Rheumatoid arthritis. M-Marfan syndrome. A-Addisons disease. [slideshare.net]

• Osteopenia

  There is generally more severe osteopenia and more extensive bone deformity than in type I. The sclerae are blue in children, and although this may persist into adulthood, they may also fade to white. [slideshare.net]

  […] with radiolucent lesions of the mandible－－ X線透過性病巣を下顎骨に有する骨減少症 Osteoporosis－pseudoglioma dysplasia 骨粗しょう症・偽神経膠腫を伴う骨異形成症 Geroderma　osteodysplasticum 骨異形成性老人様皮膚症 Hyper IgE syndrome with osteopenia 骨減少症を伴う高IgE症候群 Idiopathic juvenile osteoporosis 特発性若年性骨粗 [normanet.ne.jp]

  […] metaphyseal dense striations similar to that of osteopathia striata occurs in SPONASTRIME dysplasia (OMIM 271510) in association with vertebral and nasal defects; and in focal dermal hypoplasia (Goltz-Gorlin syndrome, OMIM 305600) in association with osteopenia [rrnursingschool.biz]

• Coxa Valga

  Disruption of the line DDx-Coxa valga. Central edge angle of wiberg: Angle subtended by one line drawn from acetabular edge to centre of femoral head+ second line perpendicular to the line connecting centres of femoral heads. [slideshare.net]

• Coxa Vara

  Coxa vara: When angle between neck & shaft is less than normal. (Normal angle at 1 year: 148 degree, at 5year 135 degree, ay elderly 120 degree) Causes of acquired coxa vara: Fibrous dysplasia, Rickets. OI. Cleidocranial dysplasia. Perthes disease. [slideshare.net]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

He is an active member of multiple international societies focusing on bone diseases and their treatment. [books.google.com]

[…] some cases, due to treatment also. [dovemed.com]

OSTEOMESOPYKNOSIS, Datagenno Interactive Research Overview Therapies & Treatments Scientific Articles Laboratories Foundations Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (5) General Ovarian [datagenno.com]

Treatment - Axial osteosclerosis Not supplied. Resources - Axial osteosclerosis [checkorphan.org]

Osteomesopyknosis, usually discovered incidentally on radiographic examination, is a mild form of familial osteosclerosis and must be distinguished from osteopetrosis which carries a worse prognosis. [ncbi.nlm.nih.gov]

Osteomesopyknosis, usually discovered incidentically on radiographic examination, is a mild form of familial osteosclerosis and must be distinguished from osteopetrosis which carries a worse prognosis. (orig.) [inis.iaea.org]

Prognosis - Axial osteosclerosis Not supplied. Treatment - Axial osteosclerosis Not supplied. Resources - Axial osteosclerosis [checkorphan.org]

Etiology The genetic basis underlying the disorder is not known. Genetic counseling The disorder appears to follow an autosomal dominant pattern of inheritance. The documents contained in this web site are presented for information purposes only. [orpha.net]

Endocrinology and the American Association of Clinical Endocrinologists}, year={2014}, volume={20 6}, pages={ e106-11 } } OBJECTIVE We present a case of osteomesopyknosis, a nonmalignant sclerosing bone dysplasia of the axial skeleton, with unknown etiology [semanticscholar.org]

Case Report 1, Pauline Camacho 1 1 Osteoporosis and Metabolic Bone Disease Center, Loyola University Medical Center Objective: We present a case of osteomesopyknosis, a nonmalignant sclerosing bone dysplasia of the axial skeleton, with unknown etiology [journals.aace.com]

Summary Epidemiology The prevalence and incidence of this disorder are not known. It has been reported in fewer than 5 families, primarily in France. [orpha.net]

Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br. 1992;74:504–6. [docksci.com]

Nerlich AG, Rohrbach H, Bachmeier B, Zink AR: Malignant tumors in two ancient populations: an approach to historical tumor epidemiology. Oncol Rep 2006;16:197-202. [karger.com]

Investigations of BMP signaling in FOP may suggest research strategies to characterize altered signaling events that lead to melorheostosis pathophysiology and/or that can be used to identify cellular targets for melorheostosis treatment. [melorheostosis.com]

How can Osteomesopyknosis be Prevented? Currently, Osteomesopyknosis may not be preventable, since it is a genetic disorder. [dovemed.com]

Symptoms - Axial osteosclerosis Causes - Axial osteosclerosis Prevention - Axial osteosclerosis Not supplied. Diagnosis - Axial osteosclerosis It is usually diagnosed incidentally in young adults complaining of back pain. [checkorphan.org]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

[…] hypointense lesions on T1- and T2-weighted images, variable increase of intensity on STIR sequences, very similar to osteomesopyknosis Spinal column, vertebral bodies Any bone can be involved Skeletal Radiol diagnostic radiologic features of this disease can prevent [docksci.com]