Our History

Dutch physician Dr. Cornelia de Lange identifies two children with similar features and describes the set of symptoms that compose the syndrome.   

The first child had pneumonia and feeding difficulties. She was very small for her age, with a proportionately smaller head circumference. Other unusual facial characteristics were noted by Dr. de Lange. Soon after, she saw a second little girl with common medical problems and physical characteristics. Nowhere was the puzzled physician able to find a similar patient described in the medical literature. Cornelia de Lange 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. Dr. Brachmann may have overlooked his report because he concentrated on characteristics of the upper limbs and wrote on the facial symptoms less specifically. 

Sue Anthony and Carol Welsh publish an informal, hand-typed family newsletter, entitled Reaching Out. This first mailing, sent to only nine families, has grown into a publication that now reaches over 10,000 families, friends, and professionals worldwide. In 2017, Reaching Out celebrated its 40th anniversary of continuous circulation. 

There are now over 3,100 individuals with CdLS that are part of the ever-growing community that the CdLS Foundation supports. 

Sue Anthony writes a letter to Exceptional Parent magazine, announcing a gathering for CdLS families in Maryland. Eighteen families gather for a picnic on a hilltop, including one new family—Julie and Frank Mairano and their daughter, Lisa, who had CdLS. Julie and Frank volunteer their time and services to help make the organization grow.

The office and its one paid staff person are based in the kitchen of a construction company office in Canton, CT. 

In 1983, Dr. Jackson becomes the first Medical Director of the Foundation. He is also credited for starting a formal collection of blood samples for CdLS research in 1990. He began his relationship with the CdLS community in 1977 when Sue Anthony sent a list of questions him. He replies and begins a long-term relationship with people who have CdLS and their families. 

Dr. Jackson dedicated in his efforts to not only understand the genetic causes of CdLS, he is equally interested in pursuing what complications led to the death of those with the condition. He publishes many articles and unselfishly shares his research in pursuit of that understanding. 

Dr. Jackson’s passion for teaching others about CdLS was contagious. He mentors two important figures in our community – Drs. Ian Krantz and Tonie Kline. Dr. Krantz is a leading clinician and researcher at Children’s Hospital of Philadelphia and Dr. Kline among her many other accomplishments, went on to succeed Dr. Jackson as the Foundation’s second medical director. 

They were originally called “CdLS conventions” and were moved inside a hotel because it poured in 1984. A group of community members vowed they would find shelter for the families from then on. 

The biennial National Family Conference continues to bring together individuals with CdLS, families, professionals, volunteers and researchers from around the world to share information, insights, support. Families learn they are not alone as they make connections with others that often last a lifetime. 

Foundation staff organized an international “yard sale” to kick-off a tradition that has lasted for decades. In 2019, Awareness Day, celebrated its 30th anniversary. 

This year also marked the creation of the Regional Coordinator (RC) program, which volunteer parents across the country offer support to fellow families with new diagnosed loved one. Today there are over 90 active RCs across the United States helping new families who join the CdLS community every day. 

A CdLS Scientific Advisory Board (SAC) is established.  The SAC includes medical professionals from around the world. The SAC also has a network of associate members of different disciplines in different countries who provide support and advice for people with CdLS wherever they may be. 

Children with CdLS are often short and below average in weight when compared to others their age. The average birth weight for children with CdLS is 5 lbs., 1 oz., but birth weights have been reported ranging from 1 lb., 2 oz. to 10 lbs. Average birth length is approximately 18 inches. Small head size (microcephaly) is a feature commonly associated with the syndrome. 

Click here to view the female growth chart

Click here to view the male growth chart

The website has gone through a few redesigns since its inception. In November of 2018, the website is redesigned to keep up with the needs of the CdLS community.  

Today, there is an average of 6,427 users that visit the website each month. 

Volunteers are charged with raising awareness of CdLS in their communities.  

In 2017, the program celebrated its 20th anniversary. Today there are over 55 active volunteers across the country raising awareness about CdLS and the Foundation each month by hosting various events/activities. 

Which has been renamed “Ask the Expert” to reflect the growing number of questions relating to education and other non-medical issues. 

Have a question? Ask here.

In 1991, the first paid staff member was hired. 

Our caring and knowledgeable Family Service Coordinators provide individuals with CdLS and their families a wealth of services, support and information. Calls placed to our support team are answered by caring professionals who listen, answer questions based on years of experience and offer individualized support over the phone and via email.  

Today, the Foundation staff is up to 11 individuals charged with different functions including, fundraising, communications and graphic design, finance, and family service. 

Dr. Kline became involved with CdLS while attending Jefferson Medical College in the 1980s. There she met Dr. Laird Jackson and saw value in what the CdLS Foundation provided families, many of whom who were struggling. 

In her role, Dr. Kline reviews medical records and photographs, free of charge, from families seeking diagnosis. She takes calls from peers considering a diagnosis or with a patient in a crisis situation. Additionally, she oversees the Foundation’s online Ask the Expert feature, which allows parents and professionals to submit questions about CdLS. She also provides free, one-on-one consultations to hundreds of families at CdLS Foundation national family conferences, taking time to listen to parents’ concerns and offer reassurance and guidance. For many families, she’s the first doctor they meet who has full understanding of how the syndrome will affect their child. 

In 2021, Dr. Kline celebrated her 20th anniversary as the CdLS Foundation’s Medical Director. 

Also in 2001, the first CdLS Clinic for Adolescents & Adults is organized by Dr. Kline at the Greater Baltimore Medical Center. This twice-yearly free CdLS clinic allows patients to meet personally with Dr. Kline and a group of specialists who donate their time. Patients leave with behavioral plans, treatment protocols and valuable information on aging issues to bring back to their personal physicians. 

A CdLS Clinical Advisory Board (CAB) is established in the US as a subset of the International SAC.  

CAB is comprised of USA professionals interested in CdLS to foster clinical collaboration and address ongoing needs of families. The Medical Director is the chairperson. 

Dr. Ian Krantz of the Children’s Hospital of Philadelphia (CHOP) and his research team identify the genetic mutation that causes CdLS-NIPBL on Chromosome 5. 

The breakthrough paves the way for genetic testing to confirm a diagnosis. It raised awareness of the syndrome among physicians and brought a biological understanding that could lead to new therapies and interventions for individuals with CdLS. 

There is also a monthly clinic at the Childrens Hospital of Philadelphia at the Center for Cornelia de Lange Syndrome and Related Diagnoses. The goal is to improve the lives of children with this rare condition and their families by providing a medical home. The specialists work together with primary care providers and families to focus on optimizing cognitive development and quality of life. 

An Italian team of researchers identifies a second genetic mutation that leads to CdLS-SMC1A on the X chromosome. 

A third gene is discovered by researchers at CHOP, specifically the Krantz lab. This gene—SMC3 on Chromosome 10—correlates with a milder form of CdLS. 

This program recognizes excellence and outstanding achievement in research and/or clinical work related to CdLS.  

The centers are: University of California at Irvine, Children’s Hospital of Philadelphia, Greater Baltimore Medical Center, Saint Louis University School of Medicine, and Stowers Institute for Medical Research in Kansas City. 

For the first time ever, the Foundation surpasses $1 million in revenue. 

HDAC8, the fourth “CdLS gene,” is identified. 

Individuals with mutations in HDAC8 have facial features which overlap with CdLS but typically display delayed closure of the anterior fontanel (the opening or “soft spot” on the top of the head in babies which typically closes around one year of age), hooded eyelids, a wider nose, varying pattern of skin pigmentation, and friendly personalities. Growth restriction also tends to be less significantly affected with this gene and a lower frequency of microcephaly (small head circumference) is reported. 

Inspired by their children affected by CdLS, New England parents and their friends make the success of this event an annual labor of love.  

Since 1992, the Charity Golf Tournament has been raising funds to help people with CdLS live better, fuller lives.   

Scientists discover that changes in the gene RAD21 causes features that overlap with CdLS. It is considered the fifth “CdLS gene”. 

Individuals with RAD21 mutations have milder cognitive impairment compared to those with “classic” CdLS. These individuals typically display growth delays, minor skeletal anomalies, and facial features that overlap with CdLS.   

Which replaces the “CdLS cube” that has been in use for nearly two decades. 

The first CdLS Clinic at Shriner’s Hospital in Salt Lake City is organized. 

Since its inception, Shriners Hospital for Children hosts its clinic annually with a range of specialists available just for children with CdLS (age 18 and younger). The specialties include the following: pediatric orthopedics, eyes ears nose and throat, gastrointestinal, pediatrics, neurology, genetics, the orthotics and prosthetics lab and physical and occupational therapy services.   

ANKRD11 the sixth “CdLS gene” is discovered. 

KBG syndrome is a neurodevelopmental disorder caused by mutations in the ANKRD11 gene. Some individuals with mutations in ANKRD11 have been reported to present with clinical features suggestive of Coffin-Siris syndrome or Cornelia de Lange syndrome. KBG syndrome is characterized by intellectual disability and/or developmental delays, characteristic facial features (triangular face, brachycephaly or a flatter appearing head, synophrys and hypertelorism or widely spaced eyes), large upper central incisors, skeletal anomalies, postnatal short stature, conductive hearing loss, and behavioral abnormalities (such as autism spectrum disorder or hyperactivity) 

Each year, committee members, which include Madison County Wood Products’ (MCWP) Jim Kesting, Jim Morton, Bryan Kesting and Pallet Logistics Managements’ (PLM) Steve Snodsmith, host the event in honor of MCWP’s Vice President, Doug Gaines’, daughter, Amber, who has CdLS. 

In 2020, Amber sadly passed away and the event’s name was changed to Amber Gaines Memorial Golf Classic. The event will continue to raise money for the CdLS Foundation, now in honor of Amber’s memory. 

The first CdLS Clinic at St. Louis Children’s Hospital is organized.  

The two-day clinic gives families easy access to a wide range of specialists in gastroenterology, ophthalmology, genetics, neurology, audiology/ear, nose and throat and psychology. Individuals with CdLS receive “head to toe” expert consultations. Families attend a luncheon and presentation about CdLS with guest speaker, Dr. Tonie Kline. 

BRD4 is the seventh “CdLS gene” that is discovered. 

The BRD4 protein is known to interact with the NIPBL protein and mutations in the BRD4 gene have been recently reported in a few individuals with an atypical CdLS presentation [Kline et al. 2018]. The spectrum of clinical features associated with BRD4 is unclear with such few cases reported in the literature at this time [Olley et al. 2018]. However, from those that have been found to carry a BRD4 mutation, significant overlap with CdLS was noted. The key overlapping features observed in those with BRD4 mutations include intrauterine growth retardation (IUGR), global developmental delay, congenital heart defects (PDA, VSD, ASD), hearing loss, seizures, and gastroesophageal reflux. Overlapping facial features include synophrys, arched eyebrows, short nose and anteverted nostrils. Several findings atypical of classic CdLS reported in these individuals include normal height, preauricular ear tag, supernumerary nipple, hypothyroidism, hyperlipidemia, and a thin corpus callosum. 

Team CdLS Bank of America Chicago Marathon runners celebrate a record-setting fundraising milestone.  

The team, which consisted of parents, siblings and friends of individuals with CdLS crushed their goal and broke all the previous 18 years of fundraising records by raising $104,000. 

“Due to the great variability of the CdLS spectrum, as well as in the care and management of individuals, a group of international experts have formed the “International CdLS Consensus Group” to make a series of recommendations. Experts in this group are part of the Scientific Advisory Council of the World Federation of CdLS Support Groups. These recommendations are outlined and explained throughout this document and the full list of recommendations is also available at the end.” 

To read them, visit: bit.ly/CdLSprotocols  

The PBS segment called “Spotlight On” which highlights CdLS premieres nationally on Rare Disease Day. This multi-year project features stories from families, experts and individuals living with CdLS. The hope is to increase awareness of CdLS.  

To watch the PBS segment, visit: bit.ly/PBSCdLS  

Due to the global pandemic, the CdLS Foundation found itself having to evolve all of its services in 2020.  

Almost everything, including clinic and Conference, are virtual for the first time in 39 years. Even through the challenging year, the CdLS community came together and the bonds of family grew stronger. 

The CdLS Foundation celebrates 40 years of serving the CdLS community.  

“Our daughter was born in 1991, and diagnosed near birth. As we left the hospital, we were given contact information for the Foundation, but in all honesty, it took us weeks to call, not particularly wanting to join this particular club, still hopeful the doctors were wrong. Soon after I called the Foundation, a mom of another child with CdLS called me, then another, (this was before the days of Facebook) and soon I was feeling more hopeful again. We attended our first Conference in Tempe in 1994 with our three other kids in tow, one a newborn, and sitting in the dining room were amazed to see so many other kids that looked like our Maddy! 

Conference was not only good for us, helping us see that others were facing and overcoming similar challenges, but also good for our children, as they played with other children in the pool during that amazingly hot week. We wanted to put on a fundraiser after our daughter passed away and the Foundation gave us the moral and logistical support to do this, Maddy’s Run and communicated with us during this terrible time.   

We have been to many conferences since 1991, we have been on the Board, I have done medical consultations and lectures, and now our oldest son is on the Board, a civil rights/disability lawyer, almost certainly influenced by his sister. The Foundation has been a great support for all of us, all along the journey.” – Lynne Kerr