Symptoma

Congenital Scoliosis due to Bony Malformation

Molecular investigations in this South African family are currently underway but at present the basis defect of brachyolmia remains unknown. [ncbi.nlm.nih.gov]

Rounding of the anterior and posterior vertebral borders is present. The Autosomal dominant type: symptoms somewhat milder than in the other types. Most cases have scoliosis or kyphosis. [answers.com]

  • Disproportionate Short Stature

    The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long-term natural course remain inadequately characterized. [ncbi.nlm.nih.gov]

    short stature Hypoplasia of the odontoid process Enlarged joints Short thorax Epiphyseal dysplasia Joint dislocation Hypoplastic iliac wing Autosomal recessive inheritance Metaphyseal dysplasia Blue sclerae Vertebral segmentation defect Intellectual [mendelian.co]

  • Precocious Puberty

    More recently, clinicians from Western Europe have described a girl of Turkish origin with PAPSS2 sequence variants who suffered from precocious puberty and bone problems, although her skeletal defects were far milder than those found in other people [riken.jp]

  • Corneal Opacity

    Toledo type--radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity. 2. [ncbi.nlm.nih.gov]

    The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism. [checkorphan.org]

    The Toledo type: probably identical to the Hobaek type with regard to the skeletal and vertebral changes, but patients also have abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. [answers.com]

    The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. [diseaseinfosearch.org]

  • Coxa Valga

    Bilateral coxa valga and mild acetabular irregularities were noticed on pelvic radiographies. Levels of chondroitin and heparan sulphate as well as the glycosaminoglycan/creatinine ratio were elevated in the 24-hour urine specimen. [ncbi.nlm.nih.gov]

    valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. [zfin.org]

  • Normal Stature

    The other members of the family were of normal stature and appearance. The proband's growth hormone stimulation tests, thyroid function tests, sex steroids, gonadotropins and blood biochemistry were found normal. [ncbi.nlm.nih.gov]

  • Polyneuropathy

    Multiple Forms, Included Amyloidosis I, Included Dysprealbuminemic Euthyroidal Hyperthyroxinemia, Included Familial Amyloid Polyneuropathy Hereditary Amyloidosis, Transthyretin-Related Hyperthyroxinemia, Dysprealbuminemic, Included Hyperthyroxinemia [ukgtn.nhs.uk]

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

200 9 Ankylosing Spondylitis C Treatment and Assessment 209 10 Reactive and Enteropathic Arthritis 217 11 Osteoarthritis A Clinical Features 224 11 Osteoarthritis B Pathology and Pathogenesis 229 11 Osteoarthritis C Treatment 235 12 Gout A Clinical Features [books.google.com]

Management and treatment No specific treatment is currently available for this disease. Prognosis The prognosis for patients with brachyolmia is generally very good. [orpha.net]

Although there is no specific treatment for any of the brachyolmias, our patient is considering decompressive spinal surgery for palliation of his symptoms. [theassr.org]

Management and treatment No specific treatment is currently available for this disease. Prognosis The prognosis for patients with brachyolmia is generally very good. Last updated: 3/19/2015 [rarediseases.info.nih.gov]

Prognosis The prognosis for patients with brachyolmia is generally very good. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis The prognosis for patients with brachyolmia is generally very good. Last updated: 3/19/2015 [rarediseases.info.nih.gov]

Etiology A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. [orpha.net]

As a likely etiology, a disturbance in chondroitin sulfate synthesis is suggested. [link.springer.com]

Etiology Mutations in the PAPSS2 gene (10q24) have been found in patients with AR brachyolmia, Hobaek/Toledo type, and in the TRPV4 gene (12q24.1) in patients with AD brachyolmia. Precise pathogenesis is not well understood. [rarediseases.info.nih.gov]

Musculoskeletal Signs and Symptoms E The Fibromyalgia Syndrome 87 4 Molecular and Cellular Basis of Immunity and Immunological Diseases 94 5 Genetics and Disease 108 6 Rheumatoid Arthritis A Clinical and Laboratory Manifestations 114 6 Rheumatoid Arthritis B Epidemiology [books.google.com]

Summary Epidemiology The precise prevalence of this form of brachyolmia is not known. About 20 cases have been reported. Cases have been reported in various ethnic groups (Japan, Korea, Turkey), sometimes related to consanguineous unions. [orpha.net]

Synonym(s): - Brachyolmia type 3 Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Molecular and Systemic Pathophysiology Qualitative abnormal excretion of glycosaminoglycans is described in some patients. As a likely etiology, a disturbance in chondroitin sulfate synthesis is suggested. [link.springer.com]

Declarations Authors’ Affiliations (1) Genetic Health Services Victoria and Murdoch Childrens Research Institute, Parkville, Victoria, Australia (2) Department of Clinical Pathophysiology, University of Florence and Meyer Children's Hospital Genetics [ojrd.biomedcentral.com]

However, given the complexity of the bone structures, the diverse origins of its components and the heterogeneity of the underlying pathophysiological mechanisms, the difficulty of identifying the disorders that were true variants eliminating unfounded [zdoc.site]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

Brachyolmia Type 3 may not be preventable, since it is a genetic disorder. [dovemed.com]