Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Phelan-McDermid Syndrome


Synonyms of Phelan-McDermid Syndrome
  • Deletion 22q13 Syndrome

Disorder Subdivisions



    General Discussion
    Phelan-McDermid syndrome is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 22 is missing (deleted or monosomic). Although the range and severity of symptoms may vary, Phelan-McDermid syndrome is generally thought to be characterized by low muscle tone, normal to accelerated growth, absent to severely delayed speech, moderate to profound mental retardation, and minor dysmorphic features. A rare number of cases with much smaller (submicroscopic) deletions of 22q13 are reported to result in mild developmental delay Current research indicates that the inability of the gene involved to produce sufficient protein for normal functioning (haploinsufficiency) may be responsible for most of the neurologic symptoms (developmental delay and absent speech) associated with this disorder.

    Organizations related to Phelan-McDermid Syndrome
    • 22q13 Deletion Syndrome Foundation/Phelan-McDermid Syndrome
      c/o Greenwood Genetic Center
      Greenville SC 29605
      Phone #: 864-250-7944
      800 #: N/A
      e-mail: sam22q13@aol.com
      Home page: http://www.22q13.com
    • Chromosome 22 Central
      237 Kent Ave
      Ontario Intl P4N 3C2
      Phone #: 705-268-3099
      800 #: --
      e-mail: a815@c22c.org
      Home page: http://www.c22c.org
    • Chromosome Disorder Outreach, Inc.
      P.O. Box 724
      Boca Raton FL 33429-0724
      Phone #: 561-395-4252
      800 #: N/A
      e-mail: info@chromodisorder.org
      Home page: http://www.chromodisorder.org
    • UNIQUE - Rare Chromosome Disorder Support Group
      P.O. Box 2189
      Surrey Intl CR3 5GN
      Phone #: 44 -0 1-883 330766
      800 #: --
      e-mail: info@rarechromo.org
      Home page: http://www.rarechromo.org



    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