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Van Buchem Disease Type 2


Presentation

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • The sequence of the 52 kb region is presented herein as SEQ ID NO.2.[google.com]
  • The sequence of the 52 kb region is presented herein as SEQ ID NO:2.[google.com.pg]
  • HYPEROSTOSIS CORTICALIS GENERALISATA, 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[datagenno.com]
Asymptomatic
  • Gene LRP5 gene, 11q13.2 (OMIM gene/locus number *603506 ) Phenotype Increased bone density, mostly asymptomatic, associated with osteosclerosis of the skull, increased calvarial thickness, enlarged and squared jaw (decreased gonial angle), enlarged mandible[iofbonehealth.org]
  • Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.[abcam.com]
  • These lesions are concentrated around the basal ganglia , peri- ventricular white matter , and the pons , and are similar to those seen in Binswanger disease . [2] [10] These white matter lesions are also seen in asymptomatic individuals with the mutated[en.wikipedia.org]
  • Patients are often asymptomatic, but some suffer from pain and hearing loss. ADOI appears to be the only type of osteopetrosis not associated with an increased fracture rate.[encyclopedia.com]
Fatigue
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.ro]
  • .  Fatigue, Weight Loss Easy Bruising And Bleeding Fever, Night Sweats Splenomegaly Gout And Renal Colic Due To Hyperuricemia 23. Replacement of the normalmarrow cavity with fibrous tissue with no trabecular or cortical disorganization 24.[slideshare.net]
Rigor
  • By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs.[books.google.com]
Pathologist
  • All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.[books.google.com]
Prognathism
  • […] absent / abnormal - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - Osteosclerosis / osteopetrosis / bone condensation - Prognathism[csbg.cnb.csic.es]
  • The face is peculiar, with a prognathic squared mandible, dental malocclusion, prominent forehead, broad and flat nasal bridge, and hypertelorism.[rrnursingschool.biz]
  • .  A lysosomal disorder due to genetic deficiency in Cathepsin K Short stature particularly limbs Delayed closure of cranial sutures Frontal and occipital bossing Nasal beaking Obtuse mandibular gonial angle with relative prognathism Segmentation[slideshare.net]
Macrocephaly
  • Insensitivity Syndrome • Angelman Syndrome (AS), Angelman-like syndrome (X-Linked Syndromic Mental Retardation, Christianson Type) NEW • Aniridia • Anophthalmia • Antley-Bixler Syndrome (ABS) • APECED • Aromatase Deficiency • Atypical Rett syndrome • Autism/Macrocephaly[diagnsticodeenfermedadesraras.blogspot.com]
  • Other features include: a large head (macrocephaly); congenital heart defects, such as aortic stenosis and ventricular septal defects; scoliosis of the back; narrowed visual fields; cleft palate ; long fingers; curving of the third to fifth fingers (clinodactyly[encyclopedia.com]
  • Unlike type I, it involves macrocephaly, with sclerosis and thickening of the skull base and calvaria, and obliteration of the diploic space. Frontal sinuses and mastoids are also obliterated.[rrnursingschool.biz]
Brachydactyly
  • Nervous system disease hsa04744 Phototransduction hsa00230 Purine metabolism H00482 Brachydactyly Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits.[kegg.jp]
Hearing Impairment
  • The thickening of the bones may compress some nerves resulting in vision and hearing impairment.[checkorphan.org]
  • Because of this, complications include those secondary to the bony enlargement, including facial distortions, cranial nerve compression, vision and hearing impairment. Differential diagnosis includes other sclerosing bone dysplasias.[radiopaedia.org]
  • […] phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ] 0003155 Headache Headaches 0002315 Hearing impairment Deafness Hearing defect [ more ] 0000365 Increased bone mineral density Increased bone density 0011001 Optic[rarediseases.info.nih.gov]
  • Classification bone, developmental, genetic Phenotypes Abnormal cortical bone morphology ; Abnormality of the clavicle ; Cranial hyperostosis ; Diaphyseal thickening ; Facial palsy ; Generalized osteosclerosis ; Mandibular prognathia ; Sensorineural hearing[mousephenotype.org]

Treatment

  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Treatment - Van Buchem disease type 2 (VBCH2) Not supplied. Resources - Van Buchem disease type 2 (VBCH2) Not supplied.[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - Van Buchem disease type 2 (VBCH2) Not supplied. Treatment - Van Buchem disease type 2 (VBCH2) Not supplied. Resources - Van Buchem disease type 2 (VBCH2) Not supplied.[checkorphan.org]
  • Prognosis The prognosis for individuals affected by sclerosing bone dysplasia varies greatly depending upon the type of sclerosing bone dysplasia and severity of symptoms.[encyclopedia.com]

Etiology

  • Etiology The syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation. Genetic counseling Transmission is autosomal dominant. Last updated: 11/15/2009 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.ro]
  • […] imperfecta type 4 Synonym(s): - Van Buchem disease Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology The syndrome has been described in less than 10 families.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. Neurology. 1983 Mar; 33 (3):267–277. [ PubMed ] [ Google Scholar ] Sugiura Y, Yasuhara T. Sclerosteosis. A case report.[ncbi.nlm.nih.gov]
  • A case of CADASIL presenting as schizophreniform organic psychosis has been reported. [6] Pathophysiology [ edit ] The underlying pathology of CADASIL is progressive hypertrophy of the smooth muscle cells in blood vessels .[en.wikipedia.org]
  • Clin Genet 25 : 175 – 181 9 1983 Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship. Neurology 33 : 267 – 277 10 1979 Endocrine function in sclerosteosis.[academic.oup.com]

Prevention

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Prevention - Van Buchem disease type 2 (VBCH2) Not supplied. Diagnosis - Van Buchem disease type 2 (VBCH2) Not supplied. Prognosis - Van Buchem disease type 2 (VBCH2) Not supplied. Treatment - Van Buchem disease type 2 (VBCH2) Not supplied.[checkorphan.org]
  • The most common ER retention signal is the amino acid sequence - KDEL or -HDEL at the C-terminus and this keeps the protein in the endoplasmic reticulum and prevents it from entering the secretory pathway.[wikivisually.com]
  • Hum Mol Genet. 1998; 7 (10):1611–1618. [ PubMed ] [ Google Scholar ] Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T. 3' deletions cause aniridia by preventing PAX6 gene expression.[ncbi.nlm.nih.gov]

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