Friday, May 29, 2015 | 10:18 PM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Rothmund-Thomsun Syndrome
Sunday, 15 August 2004
Sunday, 15 August 2004
Poikiloderma congenitale, Poikiloderma Atrophicans and Cataract, Bloch Stauffer Syndrome


Rothmund-Thomson syndrome (RTS) is a very rare genetic disorder that affects many different parts of the body. Children with this disorder have a small amount of hair and this can include the eyebrows and eyelashes. Affected children are usually short and can have bone abnormalities. RTS can also affect the eyes and may cause children to be sensitive to light. There is also an increased risk for cancer associated with RTS, especially cancer of the bone.


There have only been about 200-300 cases of Rothmund-Thomsun syndrome reported worldwide. This syndrome occurs in all ethnicities, and may occur more in females than males for unknown reasons.

Signs and Symptoms

Since Rothmund-Thomsun syndrome can affect children in different ways, children with RTS may have many or only a few of the following features. Skin: Usually the skin is normal at birth. At about 3-6 months of age, the child may get a rash that appears red, swollen and sometimes blistered. This rash usually starts on the face and then the arms, legs and buttocks can become involved. As the child grows older, the rash changes. There may be patches of skin that are lighter or darker in color and the skin can become thin and weak. Small red spots may appear on the skin and are caused by dilated blood vessels. These are called telangiectasias. All of these skin changes together is called poikiloderma. Head and Face: RTS can affect facial features and the teeth. The teeth may be small and not formed properly; there is also an increased chance of getting cavities. There may be a decreased amount of hair (alopecia) and changes in the color of the hair. The jaw may also be smaller than usual (micrognathia). Eyes: RTS causes clouding of the lenses in the eyes (cataracts) in about half of children with this disorder and these cataracts affect vision. This usually occurs when the child is between 3-7 years old. Musculoskeletal: Children with RTS are usually small. The bones may grow slower and some bones may be missing or malformed (bone dysplasia) especially in the arms and legs. Most children with RTS have normal intelligence, but they may have learning problems in rare cases. The genital or reproductive structures may not grow normally (hypoplasia), and girls with RTS may not have menstrual periods when they reach adolescence. In some individuals, the amount of red or white blood cells may be affected (anemia, neutropenia). In rare cases, RTS can cause cancers of the skin and bone.

Possible Causes

Rothmund-Thomsun syndrome is caused by changes (mutations) in certain genes. Some individuals with RTS have been found to have changes in a gene named RECQL4. Scientists are not sure yet how changes in this gene cause the symptoms and signs found in children with RTS. The changed protein that results from the changed gene may not be functioning correctly. Other genes are likely involved with RTS, but have not been identified yet. RTS is inherited in an autosomal recessive manner. This means that the affected child inherited two altered copies of the gene causing the syndrome, one from each parent. Children with one altered copy and one normal copy of the gene do not have the disease, but are called carriers. While a carrier does not have the disease there is a risk of the changed gene being passed on to his or her children.


RTS is diagnosed on finding the above described signs and symptoms during physical examination. Genetic tests may also be done to identify changes in the gene causing RTS. A sample of the skin may be taken and examined (skin biopsy) to look for specific skin changes. The child can also have X-rays done to see how the bones are affected. A full physical examination can help identify malformations in the head, teeth, arms, and legs.


Although there is no cure for RTS, a treatment plan with a team of doctors can be made to manage the problems associated with RTS. This team can include a dermatologist to help treat the skin rashes; an ophthalmologist to regularly check vision and monitor for cataracts; a craniofacial specialist to treat malformations of the head and face; an orthodontist to help repair the teeth; an orthopedist to treat bone malformations; and therapists to help with daily activities and possible learning disabilities.


Children need to be followed closely by a physician familiar with this disorder. Specifically, there needs to be close monitoring for the development of an osteosarcoma, a type of bone cancer which could be life threatening. Overall, the prognosis is good. There are many treatments and therapies available to help relieve symptoms of RTS.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


This website has general information on Rothmund Thomsun syndrome and the features it can cause.

National Foundation for Ectodermal Dysplasias (NFED)
This foundation helps provide educational booklets, support, and resources for children and parents. You can contact them on the website to request for specific brochures, like on skin and dental care.

National Organization for Rare Disorders, Inc (NORD)
This website has a general description of Rothmund-Thomsun syndrome and a list of web-links that may help provide resources. Baylor College of Medicine and Texas Children’s Cancer center Researchers at these two centers are studying Rothmund Thomsun syndrome to better understand its genetics. For more information on the study, contact Dr. Lisa Wang at (832) 824-4822 (email: or Dr. Sharon Plon at (832) 824-3334 (email: or by mail to 6621 Fannin, MC 3-3320, Houston, TX 77030.

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
This website may help you find additional resources or information on skin care and hair loss.

Google Search for Rothmund-Thomsun Syndrome

References and Sources