National Organization for Rare Disorders, Inc.
- Deletion 22q13 Syndrome
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.
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, CR3 5GN
Chromosome 22 Central
c/o Murney Rinholm
7108 Partinwood Drive
Fuquay-Varina, NC 27526
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Phelan-McDermid Syndrome Foundation
P.O. Box 1016
Venice, FL 34284
Internet: http://www.22q13.org or www.pmsf.org
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Last Updated: 5/26/2008
Copyright 2004, 2005 National Organization for Rare Disorders, Inc.
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