Is Williams Syndrome the Same as Down Syndrome?

Published by: Medicinet.com

What is Williams syndrome?

Williams syndrome is a genetic disorder that affects approximately one in 25,000 births. The syndrome is named for Dr. J.C.P. Williams, who first diagnosed the condition. He saw a pattern in children at his hospital receiving treatment for cardiovascular problems. These children shared traits like similar facial features and an unusually friendly and outgoing demeanor.

Williams syndrome is also called:

  • Beuren Syndrome
  • Early Hypercalcemia Syndrome with Elfin Facies
  • Elfin Facies with Hypercalcemia
    • Hypercalcemia-Supravalvar Aortic Stenosis
    • WBS
    • Williams-Beuren Syndrome
    • WMS

    What is down syndrome?

    Of all chromosomal conditions, Down syndrome is the most common with one in 700 babies diagnosed with Down syndrome. Most people are born with

    46 chromosomes, but those with Down syndrome have an extra copy of chromosome 2.

    While the physical features and behaviors are very similar, there are three different types of Down syndrome: Click here to read the rest of the story.

Free Download on Down Syndrome Timeline

According to the CDC, Down Syndrome is the most common chromosomal disorder. Each year 6,000 babies are born with Down syndrome which is estimated to be about 1 in every 700 babies. Here is a timeline showing Down syndrome progression over the years

This Download is helpful to use during a training on the history of Down syndrome and can be also used when conducting an introductory course on Down syndrome

Help prevent vision loss from keratoconus in patients with Down syndrome

Published by: Healio Optometry
Written by: Mitch Ibach

Keratoconus, like many ocular diseases, has genetic, systemic and environmental associations that affect prevalence.

One of the systemic conditions where keratoconus incidence is much higher is in the Down syndrome (DS) population.

DS is a genetic condition where the affected individual gets three (full or partial) copies of chromosome 21 (trisomy 21). According to the National Down Syndrome Society, one in 700 babies in the U.S. is born with DS, making it the most common chromosomal disorder.

As keratoconus (KCN) awareness continues to rise, disease prevalence studies are variable, but the trend continues to show higher incidence than previously thought.

Certain regions show higher patient numbers, but using a recent systematic global review, the authors concluded about one in 750 patients develop KCN (Hashemi et al.). In patients with DS, KCN prevalence has a larger range depending on inclusion criteria to define it, but a recent literature review showed a condensed range of 8% to 36% (Kristianslund et al.). This aligns with reported incidence of KCN being 10 times to 20 times higher in a patient with DS compared to the general population (National Keratoconus Foundation). Click here for the rest of the story.

Trisomy Awareness Month

Date: March 1- March 31, 2022

March is Trisomy Awareness Month.

Prevalence:

  • There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%
  • Down syndrome is the most commonly occurring chromosomal condition. Approximately one in every 700 babies in the United States is born with Down syndrome – about 6,000 each year
  • Down syndrome occurs in people of all races and economic levels
  • The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives
  • A few of the common physical traits of Down syndrome are: low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all
  • Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today
  • People with Down syndrome attend school, work, participate in decisions that affect them, have meaningful relationships, vote and contribute to society in many wonderful ways
  • All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses

The incidence of Down syndrome is between I in 1000 to 1 in 1,100 live birth worldwide.

  • Each year, approximately 3,000 to 5,000 children are born with Down syndrome.
  • 60-80% of children with Down syndrome having hearing issues
  • 40-45% of children with Down syndrome have congenital heart disease
Life Expectancy
  • The life expectancy increased slowly from 1900 to 1960 (by 89%) but rapidly grew from 1960 to 2007 (456%)
Life Expectancy by Race
  • Whites with Down syndrome in the United States had a median death at the age of 50 in 1997 compared to 25 years for African Americans and 11 for people of other races

Resources

10 Important Facts On Trisomy 18

Down Syndrome Timeline

Mosaic Down Syndrome

Genetic Syndromes Associated with Congenital Heart Disease

Introduction

Studies show that approximately 30% of congenital heart disease is related to genetic syndromes. awareness of these genetic syndromes can help in the planning of the individual’s care management.

The following are common genetic syndromes associated with congenital heart disease:

Down Syndrome. Studies show that congenital heart disease occurs in 40-50% of individuals with Down syndrome specifically atrioventricular canal defects. It is suggested that echocardiograms should be performed at diagnosis.

Turner Syndrome. Heart issues are common in 24-45% of girls diagnosed with Turner syndrome. The most common abnormalities are bicuspid aortic valve (16%). The researcher suggests that all Turner patients should have a baseline cardiologic exam.

22q11.2 deletion Syndrome.  In most cases, congenital heart defects is the cause of death. It is recommended that both an EKG and and EEG be done at the time of the diagnosis with ongoing follow-up.

Williams Syndrome. Approximately 75-80% of individuals born with Williams syndrome have a cardiac malformation. Hypertension is often developed in about 50% of people with Williams syndrome and continues to increase overtime.

Reference

Ko, JM (2015). Genetic Syndromes Associated with Congenital Heart Disease.  The Korean Society of Cardiology. 45 (5) 357-361