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Three M Syndrome

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Copyright 1997, 1998, 1999, 2006, 2009

NORD is very grateful to Dr. Muriel Holder-Espinasse, Service de Génétique Clinique, Hôpital Jeanne de Flandre, France, for assistance in the preparation of this report.

Synonyms of Three M Syndrome
  • 3@M Syndrome
  • Dolichospondylic Dysplasia
  • Gloomy Face Syndrome
  • Le Merrer Syndrome
  • Three-M Slender-Boned Nanism (3-MSBN)

Disorder Subdivisions



General Discussion
Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and facial (craniofacial) area, distinctive skeletal malformations, and/or other physical abnormalities. The name "three M" refers to the last initials of three researchers (J.D. Miller, V.A. McKusick, P. Malvaux) who were among the first to identify the disorder. Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a prominent, pointed chin, large ears, and/or abnormally flat cheeks. In addition, in some affected children, the teeth may be abnormally crowded together; as a result, the upper and lower teeth may not meet properly (malocclusion). Skeletal abnormalities associated with the disorder include unusually thin bones, particularly the shafts of the long bones of the arms and legs (diaphyses); abnormally long, thin bones of the spinal column (vertebrae); and/or distinctive malformations of the ribs and shoulder blades (scapulae). Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints. The range and severity of symptoms and physicial features may vary from case to case. Intelligence appears to be normal. Three M syndrome is thought to be inherited as an autosomal recessive genetic trait.

Organizations related to Three M Syndrome
  • Children's Craniofacial Association
    13140 Coit Road
    Suite 517
    Dallas TX 75240
    Phone #: 214-570-9099
    800 #: 800-535-3643
    e-mail: contactCCA@ccakids.com
    Home page: http://www.ccakids.com
  • Craniofacial Foundation of America
    975 East Third Street
    Chattanooga TN 37403
    Phone #: 423-778-9176
    800 #: 800-418-3223
    e-mail: info@craniofacialfoundation.org
    Home page: http://www.craniofacialfoundation.org/www
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: ordr@od.nih.gov
    Home page: http://rarediseases.info.nih.gov/Default.aspx
  • Little People of America, Inc.
    250 El Camino Real
    Suite 201
    Tustin CA 92780
    Phone #: 714-368-3689
    800 #: 888-572-2001
    e-mail: info@lpaonline.org
    Home page: http://www.lpaonline.org
  • MAGIC Foundation
    6645 W. North Avenue
    Oak Park IL 60302
    Phone #: 708-383-0808
    800 #: 800-362-4423
    e-mail: mary@magicfoundation.org
    Home page: http://www.magicfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-997-4488
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • 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: NIAMSinfo@mail.nih.gov
    Home page: http://www.niams.nih.gov/Health_Info
  • Restricted Growth Association
    RGA Office
    PO Box 1024
    PETERBOROUGH Intl PE1 9GX
    Phone #: 017-33 -759458
    800 #: --
    e-mail: N/A
    Home page: http://www.restrictedgrowth.co.uk

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Last modified Wednesday, November 26, 2008