Algor Cards

Williams Syndrome: A Rare Genetic Disorder

Concept Map


Edit available

Open in Editor

Williams Syndrome, also known as Williams-Beuren Syndrome, is a genetic condition characterized by a deletion on chromosome 7, affecting development and leading to distinctive facial features, heart defects, and a unique cognitive profile with strong language skills but poor visuospatial abilities. Early detection and intervention are crucial for managing the syndrome's wide-ranging impacts on individuals' lives.

Exploring Williams Syndrome: A Comprehensive Introduction

Williams Syndrome, also known as Williams-Beuren Syndrome, is a rare genetic disorder that manifests a distinctive constellation of features and developmental challenges. It arises from a deletion of approximately 26 to 28 genes on chromosome 7, which includes the critical Elastin gene. Individuals with this syndrome are often recognized by their characteristic facial appearance, congenital heart defects such as Supravalvular Aortic Stenosis (SVAS), developmental delays, and a unique cognitive profile. This profile is marked by a pronounced ability in music and language, despite the presence of intellectual disabilities. Individuals with Williams Syndrome typically have a very sociable personality and exhibit strong verbal communication skills.
Geneticist's hands in latex gloves holding a colorful DNA model with blue, red, green, and yellow spheres in a blurred laboratory background.

The Genetic Mechanism Behind Williams Syndrome

Williams Syndrome is caused by a spontaneous deletion on chromosome 7 at the q11.23 locus, which results in the loss of a segment containing several genes essential for normal development. This deletion occurs de novo, meaning it is not inherited but rather happens randomly during the creation of egg or sperm cells or in early fetal development. The absence of the Elastin gene is particularly associated with the cardiovascular and connective tissue abnormalities observed in the syndrome. The cumulative effect of the loss of multiple genes leads to the wide range of physical, cognitive, and behavioral symptoms characteristic of Williams Syndrome.

Show More

Want to create maps from your material?

Enter text, upload a photo, or audio to Algor. In a few seconds, Algorino will transform it into a conceptual map, summary, and much more!

Learn with Algor Education flashcards

Click on each card to learn more about the topic


______ Syndrome is a genetic condition caused by the deletion of 26 to 28 genes on ______.


chromosome 7


People with ______ Syndrome may have heart issues like ______ and display a friendly demeanor.


Supravalvular Aortic Stenosis (SVAS)


Chromosome involved in Williams Syndrome

Chromosome 7 at q11.23 locus


Here's a list of frequently asked questions on this topic

Similar Contents

Explore other maps on similar topics

Can't find what you were looking for?

Search for a topic by entering a phrase or keyword


What do you think about us?

Your name

Your email