Diseases & Conditions


OSMED, Homozygous

Synonyms of OSMED, Homozygous
  • Nance-Sweeney syndrome
  • oto-spondylo-megaepiphyseal dysplasia, autosomal recessive
  • oto-spondylo-megaepiphyseal dysplasia, homozygous

Disorder Subdivisions

    General Discussion
    Homozygous OSMED (oto-spondylo-megaepiphyseal dysplasia) is an extremely rare genetic disorder characterized by malformation (dysplasia) of certain bones, hearing loss and distinct facial features. Skeletal malformations affect the bones of the arms, legs and spines eventually resulting in disproportionate short stature. Hearing loss is often severe. Intelligence is normal. Homozygous OSMED occurs because of disruptions or changes (mutations) to the COL11A2 gene and is inherited as an autosomal recessive trait.

    Two additional disorders, Weissenbacher-Zweymuller syndrome and Stickler syndrome III, more commonly known as non-ocular Stickler syndrome, are also caused by mutations to this gene (allelic disorders). Some clinical researchers believe that each of these three disorders is a separate and distinct entity. Others believe that the three represent a range of severity of one syndrome. Regardless, these disorders involve alterations (mutations) of the collagen gene, COL11A2. 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, Homozygous
    • 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 Lip and Palate Association (CLAPA)
      332 Goswell Road
      London None EC1V 7LQ
      Phone #: 020- 78-33 4883
      800 #: --
      e-mail: [email protected]
      Home page: http://www.clapa.com
    • 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
    • Human Growth Foundation
      997 Glen Cove Avenue
      Glen Head NY 11545
      Phone #: 516-671-4041
      800 #: 800-451-6434
      e-mail: [email protected]
      Home page: http://www.hgfound.org/
    • 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/National Institute of Arthritis and Musculoskeletal and Skin Diseases
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-496-8188
      800 #: 877-226-4267
      e-mail: [email protected]
      Home page: http://www.nih.gov/niams/
    • NIH/National Institute on Deafness and Other Communication Disorders (Balance)
      National Temporal Bone, Hearing
      Boston MA 02114-3096
      Phone #: --
      800 #: 800-822-1327
      e-mail: [email protected]
      Home page: http://www.tbregistry.org
    • National Craniofacial Foundation
      3100 Carlisle Street
      Dallas TX 75204
      Phone #: --
      800 #: 800-535-3643
      e-mail: N/A
      Home page: N/A
    • 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