CdLS Introduction

  


CdLS Introduction

A thorough introduction to Cornelia de Lange Syndrome.
Our experts will introduce:

The different 'phenotypes' in CdLS

It will be explained which 'features' are common in CdLS and why we see so many similarities with our children. But also why we see milder manifestations and more severe manifestations.
We will also be introduced to the more hidden features, the 'inside the body' features that can have an impact on the health of our children:

An 'overview' of CdLS

Meet our experts

We have done our best to invite those from around the world to give you the insights you hope for. Professors, teachers, experienced parents and siblings will discuss the topics for the best quality of life possible. Our motto; TOGETHER!

David FitzPatrick

David FitzPatrick

Professor of Paediatric Genetics, MRC Human Genetics Unit, Edinburgh, UK

David has been a consultant in paediatric genetics in Edinburgh since 1994. His clinical interests are in paediatric neurodevelopmental disorders and in the identification of genetic causes of serious developmental disorders.

He studied medicine at University of Edinburgh and then trained in paediatrics in Edinburgh, Bristol and Glasgow. He trained in clinical genetics in Glasgow as a Wellcome Trust Clinical Research Fellow and in Johns Hopkins Hospital in Baltimore on a Howard Hughes Medical Institute Clinical Research Fellowship. 

Member of the Scientific Advisory Council of the CdLS World Federation.

Feliciano Ramos

Feliciano Ramos

He is a Paediatrician and Clinical Geneticist (ABMG-USA Certified) working at the University Hospital “Lozano Blesa” in Zaragoza, Spain, were he is the Chief of the Unit of Clinical Genetics at the Service of Paediatrics. He is Full Professor of Paediatrics and the Chairman of the Department of Paediatrics at the University of Zaragoza Medical School. He has been working in CdLS since 2004. He is the Coordinator of Spain´s National Reference Center in CdLS. 

He is member of the Scientific Advisory Committee of the Spanish Association of Families with CdLS and of the Scientific Advisory Council of the International CdLS Federation. He has been the PI of several competitive research projects about CdLS.

About the website contents

All of the information contained within these questions and answers is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know, contact see below.