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Deletion Syndrome 22q13: What the Dentist Should Know to Manage Children with Phelan-McDermid Syndrome Effectively Chris S. Ivanoff, D.D.S. and Athena E. Ivanoff, B.S, B.S. Introduction Deletion Syndrome.

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Normal stature and normal head size distinguish Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.

What is Phelan-McDermid syndrome? Phelan-McDermid syndrome, also called 22q13 deletion syndrome, is a genetic disorder caused by deletion of part of chromosome 22 or a defect in a gene called SHANK3. The disorder can cause a wide range of symptoms varying in severity.

Most cases of 22q13. 3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

One to two percent of children born with this syndrome have a life expectancy of two to three years; however, most individuals reach adulthood and can live a life span into the fifties. Early treatment should be considered for the most severe issues with this condition to prolong life expectancy.

Individuals with Phelan-McDermid syndrome generally have life-long complications associated with this disorder with no apparent life-threatening organic malformations.

Phelan-McDermid syndrome is very rare. Scientists estimate it occurs in about 2 to 10 of every 1 million live births. However, the condition can be difficult to detect, so it's underdiagnosed. It's been diagnosed in only about 2,200 to 2,500 people worldwide.

Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Hypotonia, feeding problems, and developmental delay are often the early presenting symptoms of deletion 22q13 syndrome.

Time passes: As people with Phelan-McDermid syndrome get older, they tend to have more seizures and abnormal reflexes but fewer behavioral problems.

A 2022 review notes that life expectancy for an individual with PMS is uncertain and will vary between individuals. People living with this condition do not typically experience life threatening issues but generally have lifelong complications related to the condition.

Major symptoms include very wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures.

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Form Packages
Adoption
Bankruptcy
Contractors
Divorce
Home Sales
Employment
Identity Theft
Incorporation
Landlord Tenant
Living Trust
Name Change
Personal Planning
Small Business
Wills & Estates
Packages A-Z
Form Categories
Affidavits
Bankruptcy
Bill of Sale
Corporate - LLC
Divorce
Employment
Identity Theft
Internet Technology
Landlord Tenant
Living Wills
Name Change
Power of Attorney
Real Estate
Small Estates
Wills
All Forms
Forms A-Z
Form Library
Customer Service
Terms of Service
DMCA Policy
About Us
Blog
Affiliates
Contact Us
Privacy Notice
Delete My Account
Site Map
All Forms
Search all Forms
Industries
Forms in Spanish
Localized Forms
Legal Guides
Real Estate Handbook
All Guides
Prepared for You
Notarize
Incorporation services
Our Customers
For Consumers
For Small Business
For Attorneys
Our Sites
US Legal Forms
USLegal
FormsPass
pdfFiller
signNow
airSlate workflows
DocHub
Instapage
Social Media
Call us now toll free:
1-877-389-0141
As seen in:
  • USA Today logo picture
  • CBC News logo picture
  • LA Times logo picture
  • The Washington Post logo picture
  • AP logo picture
  • Forbes logo picture
© Copyright 1997-2025
airSlate Legal Forms, Inc.
3720 Flowood Dr, Flowood, Mississippi 39232