Rothmund-Thomson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to be affected
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% chance to be unaffected and not be a carrier

When an affected person has children:

• If his/her partner is not a carrier of the condition, each of their children will be an unaffected carrier.
• If his/her partner is a carrier, each child has a 50% chance to be an unaffected carrier, and a 50% chance to be affected.
• If his/her partner is also affected, all children will be affected.

Given the rarity of Rothmund-Thomson syndrome, the likelihood that an affected person will have children with a carrier is very low. Exceptions include areas in which a founder mutation may be present (e.g., Western Austria, where the syndrome was first described) and the Mennonite population.

People with personal questions about specific genetic risks for themselves or family members are encouraged to speak with a genetic counselor or other genetics professional.

Yes. Molecular genetic testing of the RECQL4 gene (the only gene known to cause Rothmund-Thomson syndrome) is available for people who have been clinically diagnosed or for those with an inconclusive clinical diagnosis. Identifying mutations in both copies of this gene establishes the diagnosis. However, only about 66% of people (two-thirds) with a clinical diagnosis are found to have mutations. In the remaining one-third of people, the genetic cause is unknown.

If RECQL4 mutations are identified in an affected person, prenatal testing and/or preimplantation genetic diagnosis for a pregnancy at increased risk are possible options. While ultrasounds during pregnancy may detect an abnormality associated with the condition, the absence of abnormalities on ultrasound in a fetus does not exclude the possibility that the fetus is affected.

Treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities; surgery for cataracts; and standard treatment for cancer.