Diseases & Conditions
Phelan-McDermid Syndrome
Synonyms of Phelan-McDermid Syndrome
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
For a Complete Report
- 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: [email protected]
Home page: http://www.22q13.com - Chromosome 22 Central
237 Kent Ave
Ontario Intl P4N 3C2
Phone #: 705-268-3099
800 #: --
e-mail: [email protected]
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: [email protected]
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: [email protected]
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
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