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]

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]

• Lower Extremity Pain

  Broderick, MD, ASSR Member Excerpta Extraordinaire Excerpta A 27 year-old man presented with a 1 year history of progressive bilateral lower extremity pain and numbness radiating from his lower back. [theassr.org]

• Pathologist

  SNOMED CT (R) was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO." [doctor.am]

• 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]

• Heart Murmur

  Past medical history was significant for a heart murmur at birth which required no treatment or prophylaxis. Physical examination was unremarkable except for a short stature with a height of 158 cm. [theassr.org]

• Normal Stature

  Other findings were normal in the younger sister and brother. The other members of the family were of normal stature and appearance. [ncbi.nlm.nih.gov]

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]

Treatment Centers Edit Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.wikia.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]

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]