Platyspondyly is present in early childhood but patients usually come to medical attention in late childhood or early puberty as a result of stunted growth and short trunk. [orpha.net]

Besides these four types there are individual cases that can not be classified at present. the appropriate genetic counseling can be given. There is no specific treatment for any of the types of brachyolmia. [streetdirectory.com]

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

• Hirsutism

  PAPSS2 Clinical Features Top most frequent phenotypes and symptoms related to Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes; Bcym4 Short stature Scoliosis Brachydactyly Gait disturbance Kyphoscoliosis Skeletal dysplasia Platyspondyly Hirsutism [mendelian.co]

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

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]

(Outcomes/Resolutions) The prognosis of Brachyolmia Type 3 is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]

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]

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

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