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1,169 Possible Causes for Cerebellar Hypoplasia, Osteoporosis, Skeletal Dysplasia

  • Osteogenesis Imperfecta

    […] recent years, denosumab, a human monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), has become widely used as an anti-osteoclastic agent for osteoporosis[ncbi.nlm.nih.gov] When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[ncbi.nlm.nih.gov] The brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia.[ncbi.nlm.nih.gov]

  • Parastremmatic Dwarfism

    […] inheritance - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis[csbg.cnb.csic.es] The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.com] hypoplasia and distinctive facial appearance ORC1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome[genda.com.ar]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Phenotype Torg syndrome (includes NAO syndrome): multiple, painless, subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial), mild to moderate osteoporosis[iofbonehealth.org] Abstract Multicentric osteolysis nodulosis and arthropathy (MONA) is an infrequently described autosomal recessive skeletal dysplasia characterized by progressive osteolysis[doi.org] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[mygenomics.com]

  • Roy-Maroteaux-Kremp Syndrome

    Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis[rgd.mcw.edu] DYSPLASIA SYNDROME middle lobe syndrome Miles-Carpenter syndrome Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome[rgd.mcw.edu] […] ataxia, mental retardation and dysequlibrium syndrome Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar[rgd.mcw.edu]

  • Platyspondyly

    The segregation of flanking marker alleles of three collagen genes and the interval for osteoporosis-pseudoglioma syndrome were analyzed.[push-zb.helmholtz-muenchen.de] TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.[unboundmedicine.com] […] agenesis Vertebral compression fractures Hypoplasia of the pons Thin ribs Autism Limb undergrowth Cerebellar hypoplasia Microcephaly Pica Global developmental delay Supernumerary[mendelian.co]

  • Tollner-Horst-Manzke Syndrome

    Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis[rgd.mcw.edu] […] of kidneys and pancreas Sjogren-Larsson syndrome Skeletal dysplasia, San Diego type Skeletal dysplasias - Not a rare disease Skin fragility-woolly hair-palmoplantar keratoderma[rarediseases.info.nih.gov] […] ataxia, mental retardation and dysequlibrium syndrome Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar[rgd.mcw.edu]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    , Dian Jing , Jin Hao , Ge Tang , Pu Yang & Zhihe Zhao Calcified Tissue International (2018) Extracellular Matrix and Developing Growth Plate Johanna Myllyharju Current Osteoporosis[nature.com] Delineation of Skeletal Dysplasias The discovery of new skeletal dysplasias has been an ongoing process since the 1940s.[musculoskeletalkey.com] hypoplasia.[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    There are no life-threatening causes of osteoporosis . However, complications resulting from untreated osteoporosis are common.[wikidoc.org] Home Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.[hgsc.bcm.edu] hypoplasia Epiphyseal dysplasia Familial expansile osteolysis Finding of arrangement of skeletal muscle Hereditary acrosteolysis Hypochondrogenesis Hypochondroplasia Idiopathic[emedcodes.com]

  • Fragile X Syndrome

    Adults, however, may experience additional health challenges including CF-related diabetes and osteoporosis.[who.int] Ciesielski KT, Harris RJ, Hart BL, Pabst HF: Cerebellar hypoplasia and frontal lobe cognitive deficits in disorders of early childhood. Neuropsychologia 1997;35:643–655.[doi.org] The state of early estrogen deficiency leads to additional clinical consequences such as an increased risk of low bone density, earlier onset osteoporosis and bone fractures[doi.org]

  • Cole-Carpenter Syndrome

    The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[humangenetik.uk-koeln.de] dysplasias.[books.google.com] Next Document: Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?[biomedsearch.com]

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