Rothmund-Thomson Syndrome
FoundationThe Rothmund-Thomson Syndrome Foundation is a501(c) (3) nonprofit organization. It wasincorporated in November, 2009 by the Kimmel Family
after the loss of their daughter Victoria who had RTS.
Currently, we operate with nine volunteer board
members who raise money to support the Foundation'sgoals.

Ways to Give
The Research of Rothmund-Thomson Syndrome (RTS)
and related disorders is ongoing at Baylor College ofMedicine, in affiliation with Texas Children's Hospital.
Your support will help us continue to promote RTS
awareness to the general public, healthcareprofessionals, and individuals affected with RTS andtheir family members. Your donations will also enable
us to sponsor annual conferences and regionalseminars, and expand research activities worldwide.

Understanding

Rothmund-Thomson
Syndrome

Donate by check
Please make checks payable to theRTS Foundation and send directly to theaddress below:
RTS Foundation
4307 Woodward Court
Chantilly, VA 20151

Donate by credit card
For more information on how to make a donation bycredit card, please visit our website: www.rtsplace.org

The Mission of the Rothmund-Thomson Syndrome
Foundation is to foster worldwide awareness andeducation about RTS and related disorders and toencourage research through support of scientists andphysicians devoted to studying the clinical spectrum,molecular and cellular basis of RECQL4 and relatedsyndromes.

Get Involved
Visit our website: www.rtsplace.org for news andupcoming events.
Facebook Join us at Rothmund-Thomson Syndrome
Foundation(RTS). A support group has been
established for patients and their family members andis currently active and growing.

How common is it?
What are the features?
How is it diagnosed?
How is it inherited?
Are resources available?
www.rtsplace.org

What is RTS?
Rothmund-Thomson syndrome (RTS) is a rare genetic disorderthat can affect people of all races andnationalities. Symptoms often first appear during infancy,
usually between three and six months of age, in the form of askin rash on the cheeks. Patients can have just a few or several
features of the syndrome.

HOW COMMON IS RTS?
RTS is a rare disorder, and the exact number of cases
worldwide is not known. There have been a few hundred casesof RTS reported in the medical literature. RTS is not specific toany one race or nationality. However, because it is a recessive
disorder, consanguinous (related by blood) families have an
increased risk of disease.

CLINICAL FINDINGSRTS is characterized by the following clinical features:● A unique skin rash, that begins in infancy usually on thecheeks, and spreads to the arms and legs and persists for life.
This rash is called poikiloderma, and consists of areas ofincreased and decreased pigmentation, prominent bloodvessels, and thinning of the skin.
● Sparse/absent scalp hair, eyebrows, and/or eyelashes● Small stature● Diarrhea and/or vomiting in early childhood● Bone deformities● Dental and nail abnormalities● Juvenile cataracts● Cancer: skin (usually basal cell or squamous cellcarcinomas) or bone (osteosarcoma)

DIAGNOSIS OF RTS
Diagnosis of RTS is primarily made through evaluation ofclinical features. In general, having the classic rash(poikiloderma) is the main finding for making the diagnosis ofRTS. A skin biopsy may also be helpful in showing changes thatare consistent with poikiloderma. Patients may have an“atypical” rash that is not quite classic for RTS, but if they haveat least two other of the clinical features associated with RTS,
then they are considered to have “Probable RTS.” In mostcases of RTS, the clinical diagnosis can be confirmed bymolecular testing of the RECQL4 gene.

What is RECQL4?
RECQL4 is a gene located on chromosome 8. Genes arepackages of DNA, or genetic material, that help in theformation of proteins which carry out specific functions in thebody. RECQL4 is the only gene that is currently known to beassociated with RTS. Patients with mutations, or changes, inboth copies of their RECQL4 genes can develop RTS. However,
only about two-thirds of patients with a clinical diagnosis ofRTS will have mutations found in their RECQL4 genes.
Therefore, there are likely other genes that can also cause RTS.
DNA sequence analysis and mutation testing of the RECQL4
gene are available through the Baylor College of Medicine
Medical Genetics Laboratory. Presence of mutations in RECQL4
can confirm a diagnosis of RTS; however, absence of mutations
in RECQL4 does not necessarily mean that the patient does nothave RTS, since one-third of patients clinically diagnosed withRTS do not have mutations in this gene. Researchers at Texas
Children’s Cancer Center have shown that presence of RECQL4
mutations is associated with increased risk for developing
osteosarcoma. They are continuing to study the function of theRECQL4 protein to try to understand why lack of this protein
leads to the findings seen in RTS.

INHERITANCE
Since RTS is usually inherited in an autosomal recessive
pattern, affected individuals inherit one abnormal (mutated)
gene from each parent. If an individual only has a mutation in
one gene, then he/she is a carrier (e.g., parents of RTS patientsare carriers). Therefore, at conception there is a 25% chanceof the offspring of two carriers to be affected with the disease,a 50% chance of being an asymptomatic carrier, and a 25%
chance of being unaffected (“normal” RECQL4 genes).

ADJUSTING TO RTS
Most parents of an individual affected with RTS wonder if theirchild will ever be able to lead a normal life. Ongoing researchstudies conducted at Baylor College of Medicine and Texas
Children’s Hospital have found that RTS patients can lead very
fulfilling lives. Patients appear to have normal life spans (in theabsence of cancer), and several have gone on to have familiesof their own.

RTSF Medical Advisory Board Members
Lisa L. Wang, MD
Associate Professor
Texas Children’s Cancer Center
Department of Pediatrics, Hematology/Oncology
Baylor College of Medicine
Houston, TX
Moise L. Levy, MD
Physician-in-Chief, Dell Children’s Medical Center
Chief, Pediatric Dermatology, Dell Children’s Medical Center
Austin, TX
Carol Clericuzio, MD
Division of Genetics/Dysmorphology
University of New Mexico
Albuquerque, NMCaroline Brain, MD
Pediatric Endocrinologist
Great Ormond Street Hospital
University College London Hospital
London, England

RTSF Board of Directors
Chair – Staci Hanson
Vice-Chair – Laurie Sperou
Treasurer – Shelley Sanders
Secretary – Sylvie Plante
Contact us at: rtssupport@rtsplace.org

For more information on Rothmund-Thomson
Syndrome, please visit:
Rothmund-Thomson Syndrome Foundation
http://www.rtsplace.org
Gene Reviews
http://www.genetests.org