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Last Updated: 02/23/2018

 Disability Information - Cornelia de Lange Syndrome (CdLS)


General Information

Education & Classroom Accommodations

Michigan Resources, Support Groups, Listservs & Websites

National Resources & Websites

Articles Related to this Disability

Medical Information

Books & Videos

Personal Home Pages & Websites


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 General Information

Cornelia de Lange Syndrome (CdLS) is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.
As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birth weight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, down-turned lips.
Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.

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FAQs About CdLS
CdLS is a congenital syndrome, meaning it Is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made. As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.

Pediatric Database (PEDBASE)
A disorder of unknown etiology resulting in a syndrome characterized by specific dysmorphic features.

Assisting the Social Development of Children with CdLS
article from Reaching Out
For children in general, social competence -- meaning the ability to socially interact in an effective, responsive and appropriate way -- starts even before a child learns to speak. With children who speak very little, the time parents spend interacting with their child helps prepare them for future interactions with adults or other children.

Cornelia de Lange Syndrome
Disorder Zone Archives
Cornelia de Lange syndrome (CdLS) is a disorder that results in several physical and developmental abnormalities. The cause of CdLS is unknown at this time, however, it is thought that the disorder may be of a genetic nature (possibly a faulty gene on chromosome 3). Most cases are sporadic, however, there has been documentation of affected siblings, which would suggest inheritance. It is said to occur in 1 in 10,000 to 1 in 30,000 live births and is found equally in males and females. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed.

Dr. Lou Brown Advises Parents to Prepare Their Children for Adulthood
article from Reaching Out
A federal law passed in 1976 said that all children with disabilities have a right to a tax-supported education in the least restrictive environment teaching them to the highest point of their abilities. According to Lou Brown this law, buoyed by tax dollars, although good in its intent, segregated children with disabilities from the real world of respect, dignity and choices.

Developmental delays include: low birth weight (<2500g), sluggish physical activity, initial hypertonicity, speech delay (associated with hearing loss) with low pitched, growling monotonous sounds, mental retardation (average IQ 53)32, feeding difficulties, and psychomotor retardation (decreased acquisition of skills requiring the coordination of mental and muscular activity).

Cornelia De Lange Syndrome
Cornelia de Lange syndrome (CDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations mainly involving the upper extremities. Cornelia de Lange first described it as a distinct syndrome in 1933, although Brachmann had described a child with similar features in 1916. Diagnosing CDLS in classic cases is usually straightforward, but diagnosing CDLS in milder cases may be challenging, even for an experienced clinician.

Cornelia de Lange Syndrome (CdLS)
Syndrome is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems related by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it.

Visual Gaze Behaviors in Children with CdLS
article from Reaching Out
Dr. Mary Morse, an educational consultant with a private practice in Pembroke, New Hampshire, provides assessments, in-service training and consultations on behalf of children with special needs throughout the United States and Canada. We are grateful to Dr. Morse for allowing us to present her work in Reaching Out. Dr. Morse stresses that we also need to examine possible physiological reasons for gaze averting behavior.

What is Cornelia de Lange Syndrome (CdLS)?
In 1933, Dr. Cornelia de Lange, a Dutch pediatrician, described two children with similar features. She is now generally credited with describing the collection of symptoms comprising the syndrome that bears her name. The syndrome is sometimes referred to as Brachmann-de Lange Syndrome, after Dr. W. Brachmann who described a similar patient in 1916.

Differences Are the Norm for Children With CdLS: A Discussion of Why Children with CdLS Behave Differently
article from Reaching Out
For a person with CdLS, being normal may include behaving differently. Why is this true? At a workshop at the 1994 Arizona Convention Dr. Douglas Stockwell answered that question as he briefed parents on behavior patterns and problems normal to children with CdLS.

Who Named It? Brachmann-de Lange syndrome
In a review in 1985, John Marius Opitz (1935-) commented: "Brachmann's paper is a classic of Western Medical iconography, deserving to be commemorated in the eponym "Brachmann- de Lange syndrome." This conjoined eponym is now generally accepted, although the term "de Lange" or Cornelia de Lange's syndrome is also common.

What does Cornelia de Lange Syndrome mean for a child?
UC Davis Children’s Hospital
Cornelia de Lange Syndrome is diagnosed by clinical features. Children with this Syndrome often have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Their hairline may be lower than other family members, and they may have more body hair. These features are often less obvious in males after puberty. Children are often shorter than others in the family. None of these features may cause a problem for the person concerned; they are just clues for a diagnosis.

Research Shows all Children with CdLS make Developmental Progress
article from Reaching Out
One question parents of children with CdLS ask pediatricians is, "How will my child do?" Pediatric geneticist Dr. Antonie Kline answered that question at the CdLS Foundation's Boston Convention with results from research by her and other professionals at the Jefferson Medical College, Philadelphia. Dr. Kline pointedly thanked parents for their children's participation in these studies.

More About CdLS
A child with Cornelia de Lange Syndrome (CdLS) may live in your neighborhood, go to your school, or be a part of your family. Yet, because CdLS is a rare syndrome, many children go undiagnosed for months or even years. There are about 2,500 known cases of CdLS in the world--1,500 in the U.S.--but experts estimate that there are 5 to 10 times that many undiagnosed cases.

Communication Intervention in Cornelia de Lange Syndrome
by Marjorie T. Goodban, Ph.D.
This article provides comprehensive information about speech and language abilities in the Cornelia de Lange syndrome (CdLS), also known as the Brachmann-de Lange syndrome, and describes successful therapy approaches with this population. It presents a review of the literature and summarizes information gained from a database of 116 children diagnosed with CdLS along with general information resulting from more than 275 evaluations of children with this syndrome. Also included are prognostic indicators for the acquisition of speech and language as well as intervention recommendations for speech-language pathologists. The asynchronous development of receptive versus expressive language abilities and the presence of oral-motor apraxia are documented. Also suggested is the likelihood of higher cognitive functioning than expressive language skills would indicate.

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 Education & Classroom Accommodations

Ask the Doctor: Helping Children With CdLS Stay Focused in School
answered by Mary Morse, Ph.D.
By and large, attention is related to the ability to manage states of arousal which, in turn, is both a neurological and a motivational function. Neurologically, a child needs to be prepared to receive, organize and interpret incoming sensory information. To do this involves, (a) the ability to withdraw attention from some other event in the environment (i.e., perseverative behaviors), (b) knowing what to attend to and, (c) inhibiting competing events occurring at the same time. Simultaneously, no one can sustain attention if they do not find the activity motivating. When children perceive the activity as pleasurable and interesting, they find the activity reinforcing. Young children must have immediate payoff.

Ask the Doctor: Transitioning Out of the Special Education Classroom
answered by Mary Morse, Ph.D.
The first one is that a sudden transition from a half to a whole day may be physically and emotionally tiring and stressful. It will be helpful for you and the school staff to check out the physical environment of the new classroom (noise level and visual stimulation), the curriculum and her relationships with other students and discuss changes that could be looked at in light of your daughter's needs.

Communicating with Symbols Promotes Skill Development in Children with CdLS
article from Reaching Out
Speech, gestures, written symbols, signing and objects -- they are all ways to communicate a message. For some people with multiple disabilities, however, words may be the least effective method. Other symbols may do the job better. The critical component in using symbolic communication is an inner understanding by the child that a particular symbol truly represents a particular activity, object, action or feeling.

Educational Techniques to Promote Increased Symbolic Communication and Active Participation
by Mary Morse, Ph.D.
Symbolic communication can take a variety of forms, the more common ones being gestures, speech, written symbols and pictures. There are, however, other means to communicate a message, namely gestures, signing, finger spelling and the use of objects. The critical component required in the ability to use any form of symbolic communication, however, is the development of an inner understanding that a particular symbol represents a particular activity, object, action, or feeling.

Guidelines for Evaluating a Pre-School Program for Children with CdLS
by Mary Morse, Ph.D.
What types of assessments is the school going to use? What modifications to the testing procedures will be necessary -- especially if the child has no language (which means she needs non-language-based testing)? What help do the assessors, themselves, feel they need in testing?

Helping Your Child Communicate Using Diaries and Scrapbooks
article from Reaching Out, adapted from work by Mary Morse, Ph.D.
Many families keep a detailed record of significant events in their lives by taking photographs and keeping them in albums. These albums allow family members to remember important times and share their memories with others. Similarly, keeping a personalized account of daily events, through a diary or a scrapbook, also lets children recall their experiences and develop a sense of time -- past, present, and future. It promotes understanding of symbolic representation and encourages children to communicate by sharing their activities and experiences with others. Keeping a scrapbook or a diary gives children a topic of conversation and becomes an activity to do with someone else. Diaries are particularly effective in communicating special home events to school, and vice versa.

Making the Educational Experience Work
By Mary Morse, Ph.D.
Instructional Considerations include such factors as relevant goals and objectives, motivating and understandable activities, and providing appropriate adaptations and supports to help your child be successful.

Patterns of Inheritance
The Contact a Family Directory
Genetics is the branch of biology concerned with heredity and individual characteristics. Specific conditions and rare disorders may have a genetic basis. Where this is the case there will be a variety of causes. For example; the causes may include a single abnormal gene, a chromosomal abnormality or a genetic predisposition allied to other factors.

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 Michigan Resources, Support Groups, Listservs & Websites

Cornelia de Lange Syndrome Awareness Day
Office of the Governor,1607,7-168-22678_25488-71950--,00.html
Resolved, That I, Jennifer M. Granholm, Governor of the State of Michigan, do hereby proclaim May 10, 2003, as Cornelia de Lange Syndrome Awareness Day in Michigan.

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 National Resources & Websites

Cornelia de Lange Syndrome Foundation, Inc.
302 West Main Street, #100
Avon, Connecticut 06001
Phone: 860-676-8166


Cornelia de Lange Syndrome (CdLS) Online Support Group
Welcome to the Cornelia de Lange Syndrome (CdLS) Online Support Group. The group was started by several moms who met regularly online and realized how wonderful it was to have a convenient way of communicating. CdLS is rare enough that finding other parents in close proximity is not always feasible. Now, through this miracle of technology, we can connect with others who have much in common...wherever we may be in the world. We are no longer alone!

Cornelia de Lange Syndrome Forum
Our goal is to provide emotional support and fellowship among parents and caregivers of children and adults with CdLS. Here we can discuss their accomplishments and defeats, knowing we can find understanding, encouragement, or a shoulder to cry on. We can also get some idea of how others address specific problems/concerns with feeding, learning, schools, techniques and equipment. We are by no means a forum for dispensing medical advice or diagnosis.

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 Articles Related to this Disability

by Ian Krantz, M.D.
The goal of our research investigations is to identify the underlying molecular cause of CdLS. Many people drive this process. It involves the tireless work of Dr. Laird Jackson, the staff at my research laboratory here at The Children's Hospital of Philadelphia and at the research lab of Dr. Tom Strachan at The University of Newcastle upon Tyne in England, as well as the many clinicians who refer their patients to us. Most importantly, it involves all of the children and adults with CdLS, and their families who have generously contributed samples.

Cornelia de Lange syndrome associated with cecal volvulus: report of a case
Masumoto K, Izaki T, Arima T.

Cornelia de Lange syndrome is known to be occasionally associated with gastrointestinal malformation. However, the occurrence of cecal volvulus in such anomalies is very rare. We report a 15-y-old Japanese boy with Cornelia de Lange syndrome associated with a cecal volvulus secondary to non-fixation of the cecum and ascending colon.

Taking Care of Me
by Eileen P. Ahearn, M.D., Ph.D.
In the event of a child born with CdLS, parents must mourn the loss of their fantasized and longed for "normal" infant while accepting the birth of their child with a disability. At the same time, there are often adjustments in meeting the special needs of the infant and decisions to be made about his or her medical care.

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 Medical Information

Blepharitis Common in CdLS
by Alex Levin, M.D. FRCSC
"How many of your children have had serious problems with red, teary or goopy eyes?" asked Dr. Alex Levin during the Saturday Research Update Session at the 1995 Conference in Florida. Half of the audience quickly shot up their hands, waiting to hear more about the new findings that Dr. Levin had briefly touched on earlier in the Conference during his "Ask the Doctor" workshops on the eyes of people with CdLS.

Ear Infections in Children with CdLS
Dr. Robert Thayer Sataloff is Professor of Otolaryngology at Thomas Jefferson University in Philadelphia, Pennsylvania. He is a member of the Foundation's CdLS LINK program, and has served as a consultant to our families on medical issues relating to the ears, nose and throat. In the following article, Dr. Sataloff offers the latest information on ear infections in people with CdLS, plus two opportunities for our readers to help with current research.

Diaphragmatic Hernia and CdLS
article from Reaching Out based on findings of Chris Cunniff, M.D.
In a forthcoming issue of the American Journal of Medical Genetics, Cunniff et al report that diaphragmatic hernia may be a relatively common feature in newborns with the Cornelia de Lange syndrome. Twelve newborns are presented from a number of centers in the United States and Germany. Children with a diaphragmatic hernia were more likely to be of low birth weight and to have major upper limb malformations. Of special importance was the finding of ectrodactyly (lobster claw hand abnormality) in four of the twelve children reported.

Feeding Difficulties are Confirmed for Persons with CdLS
article from Reaching Out based on findings of Annemarie Sommer, M.D.
The importance of feeding difficulties as part of the CdLS clinical picture was recently affirmed by Dr. Annemarie Sommer in her paper entitled "The Cause of the Feeding Difficulties in Cornelia de Lange Syndrome is the Sandifer Syndrome" which she presented at the David W Smith Conference held at lake Arrowhead this past fall.

The Cause of Feeding Difficulties in CdLS is Sandifer Syndrome
article from Reaching Out by Annemarie Sommer, M.D.
Cornelia de Lange Syndrome is characterized by physical and mental retardation, hirsutism and synophrys, microcephaly, a long philtrum, anteverted nostrils, and small or grossly malformed hands. A characteristic hoarse growling cry is present. The most common complications are neonatal feeding or respiratory difficulties. Recurrent episodes of aspiration are frequent. We propose that most of the complications are due to an associated Sandifer Syndrome. Sandifer Syndrome is described as gastroesophageal reflux causing paroxysmal dystonic posture including torticollis and opisthotonus.

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
de Lange syndrome 1
A frequent multiple congenital anomaly/mental retardation syndrome of unknown etiology which affects 1/10,000 newborn infants. The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional Sandifer anomaly (abnormal body posturing, torticollis, and gastro-esophageal reflux with or without a hiatus hernia).

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 Books & Videos

FREE! Facing The Challenges
The 2001 printing of this invaluable book is now available online as a series of Adobe PDF files. Due to filesize and bandwidth considerations, the book has been divided into sections to make the files more manageable and easier to download.

FREE! CdLS-USA Informational Material Request Form
Four different publications available.


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 Personal Home Pages & Websites

Jessica's Place
Hello, and welcome to Jessica's Place. Jessica was born in September 1996 and was diagnosed with Cornelia de Lange Syndrome (CdLS) at two months of age. With this web site, we'd like to share a little bit of Jessica's life and experience with CdLS in hopes of reaching out to families, caregivers, teachers and others who have a person with CdLS in their lives; as well as those interested in learning more about the syndrome.

Amanda’s Room
Welcome to my web page... I am Amanda and I am eleven years old. Your visit to my page is very important to me. You see, I have a rare syndrome called Cornelia de Lange Syndrome or CdLS. Since it is so rare many people, including medical professionals, have never heard of it. So, please stick around and learn about me and CdLS. The knowledge you aquire could warm your heart and in some way help myself or another CdLS person someday.

Geoff's Stuff: The Successes of One Unique Guy
This site will be used to explore the way Geoff (and his family) have found to work around his disabilities, to allow him to be all that he can be.

Kayla’s Story: Living with Cornelia de Lange Syndrome
Just four months into my pregnancy, I knew something was wrong. Ultrasounds pointed to some physical abnormalties—my baby's kidneys were enlarged, and she was not growing as quickly as expected. Her head was also very small.

I'd like to introduce you to Aleah, my little sister. She's a real 9 month old cutie! She has long eyelashes, thin upper lip, downturned corners of her mouth. Aleah was born with the Cornelia de Lange Syndrome. CdLS is a rare genetic disorder, that really has no known cause. These characteristics you've read so far about Aleah are only a few ..... she has other challenges, but you would never know it. She has a wonderful disposition. She loves to coo and gurgle. Her smile not only lights up her face, but it will yours as well.

An Angel’s Story
I am about to embark on a journey that is really quite difficult. It will be a short one though, it ended much too quickly. This is going to be the story of my little angel. Her name is Lindsey Leanne Griffin. She was born September 17, 1997. There were several 'strange' things that happened when this child was born.

Growing up with Marci and CdLS
Hello. My name is Marci and I am 24 years old. I have Cornelia de Lange Syndrome (CdLS).

Kendra’s Corner
Hi! My name is Kendra. I am six years old and have Cornelia de Lange Syndrome (or cdls). My syndrome is so rare that most people have never heard of it and there are many other children just like me who are undiagnosed. I hope that someday people will recognize cdls as easily as they do Downe Syndrome or other more commonly known syndromes. My Mommy, Daddy and me welcome you to my web page. We want to tell you a little about my life.

Will’s Way
This story begins in the early morning hours of September 26,1991 when a tiny new baby enters the world. He opens his eyes and see's a room full of grim faces and a mom and dad in tears. You see, he couldn't see what they all could, that he looked different than all the others born that day. For he was born with a rare and serious condition called Cornelia deLange Syndrome. The doctors suspected his life would be difficult and limited. His mom and dad grieved for the perfect baby that wasn't born. But they couldn't see what the boy would eventually see ; yes I am different, but I have will and can make my own way.

Maddy’s Farm
Cornelia deLange Syndrome (CdLS) is probably have never seen another child like me. Please click on the links below to travel through my pages and learn a little about me and my family.

Miggy’s Place
Juan Miguel S. Valencia, Miggy as he is fondly called will be turning five next year March 4, 2002. I can not say the hard times are over because medically speaking, our doctors briefed us on an even worse scenario. We may yet expect scoliosis, corrective surgery on his hips, reflux and seizures.

Kayla’s Story
Just four months into my pregnancy, I knew something was wrong. Ultrasounds pointed to some physical abnormalties--my baby's kidneys were enlarged, and she was not growing as quickly as expected. Her head was also very small.

Katie’s Corner
Hi! My name is Katie and I'm 4 years old. I have a very rare syndrome called Cornelia de Lange Syndrome or Brachmann de Lange Syndrome. You can just abbreviate it if you like to CdLS. It's easier for Mommy and Daddy to say that way too.

Remembering Adam
What can one write about a little boy who knew pain, yet kept his innocence? Who hadn't yet learned about hatred, discrimination, and all the adult woes? Who had nothing but love for his friends and family, and who would have given anything to live, to learn how to communicate his thoughts? Here are my memories of my brother. No words will ever do justice to such a beautiful, loving, and gentle soul.

Down on Kailee’s Street
Hello, my name is Kailee Morgan Welsh, but you can just call me Kailee. I was born with a rare genetic disorder called Cornelia de Lange Syndrome, or CdLS for short.

Teresa’s Place
Teresa Stafford Teresa was born July 14, 1977. The doctor's expected date for Teresa to be born was around the third week of August. Teresa weighed 4 lbs. 5 ozs. at birth. At first due to her small size the doctor was sure she was premature. In just a few hours after birth, the doctor told us, "There seems to be some problem, she is having trouble breathing.

Welcome to Hannah Ashley's Corner of Cyberspace
A Place to Celebrate Life

Chantells Home Page
My name is Chantell (without the e). I am 10 years old. I suffer from a rare condition called "Cornelia DeLange Syndrome".

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