Diseases & Conditions


OSMED, Heterozygous

Synonyms of OSMED, Heterozygous
  • Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant
  • Oto-Spondylo-Megaepiphyseal Dysplasia, Heterozygous
  • Pierre-Robin Syndrome with Fetal Chondrodysplasia
  • Stickler Syndrome Type III
  • Weissenbacher-Zweymuller Syndrome
  • WZS

Disorder Subdivisions

    General Discussion
    Heterozygous OSMED (oto-spondyl-megaepiphyseal dysplasia) is a rare genetic disorder characterized by skeletal malformations resulting in shortening of the upper limbs and thighs and short stature (rhizomelic dwarfism). Additional symptoms include distinctive facial features and delays in psychomotor development. After the initial period of growth deficiency, affected individuals experience gradual improvement in bone growth that leads to normal physical development by early childhood. Mental and motor development is also normal by early childhood. In some cases, affected individuals develop hearing loss. Heterozygous OSMED occurs because of disruptions or changes (mutations) to the COL11A2 gene.

    A group of collagen disorders (i.e., OSMED, Weissenbacher-Zweymuller syndrome and non-ocular Stickler syndrome or Stickler syndrome type III) are all caused by mutations to the COL11A2 gene (allelic disorders). Some researchers consider these three disorders separate entities; others believe that they are the same disorder or different expresses of one disorder. Recently, some researchers have suggested that the name OSMED be used as a general heading to consist of heterozygous OSMED, which encompasses Weissenbacher-Zweymuller syndrome and Stickler syndrome type III and is inherited as an autosomal dominant trait and homozygous OSMED, which encompasses autosomal recessive cases of oto-spondylo-megaepiphyseal dysplasia.

    Organizations related to OSMED, Heterozygous
    • American Academy of Audiology
      11730 Plaza America
      Reston VA 20190
      Phone #: 703-790-8466
      800 #: 800-222-2336
      e-mail: [email protected]
      Home page: http://www.audiology.org
    • Better Hearing Institute
      515 King Street, Suite 420
      Alexandria VA 22314
      Phone #: 703-684-3391
      800 #: 800-327-9355
      e-mail: [email protected]
      Home page: http://www.betterhearing.org
    • Cleft Palate Foundation
      1504 East Franklin Street
      Chapel Hill NC 27514-2820
      Phone #: 919-933-9044
      800 #: 800-242-5338
      e-mail: [email protected]
      Home page: http://www.cleftline.org
    • European Skeletal Dysplasia Network (ESDN)
      Wellcome Trust Centre for Cell-Matrix Research
      Manchester None M13 9PT
      Phone #: 44 -161- 275 5642
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.esdn.org
    • Genetic and Rare Diseases (GARD) Information Center
      PO Box 8126
      Gaithersburg MD 20898-8126
      Phone #: 301-519-3194
      800 #: 888-205-2311
      e-mail: [email protected]
      Home page: http://www.genome.gov/10000409
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: [email protected]
      Home page: http://www.marchofdimes.com
    • NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
      1 Communication Ave
      Bethesda MD 20892-3456
      Phone #: 301-402-0900
      800 #: 800-241-1044
      e-mail: [email protected]
      Home page: http://www.nidcd.nih.gov
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: [email protected]
      Home page: http://www.niams.nih.gov/Health_Info
    • Pierre Robin Network
      3604 Biscayne
      Quincy IL 62305
      Phone #: 217-224-0698
      800 #: --
      e-mail: [email protected]
      Home page: http://www.pierrerobin.org
    • Stickler Involved People
      15 Angelina
      Augusta KS 67010
      Phone #: 316-775-2993
      800 #: --
      e-mail: [email protected]
      Home page: http://www.sticklers.org
    • Stickler Syndrome Support Group
      PO Box 371
      Surrey Intl KT12 2YS
      Phone #: 44 -193-2 267635
      800 #: --
      e-mail: [email protected]
      Home page: http://www.stickler.org.uk

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html