Rubinstein-Taybi Syndrome (visit site) is a rare genetic disorder characterized by short height, moderate to severe mental retardation, small hands and feet, distinctive facial characteristics, heart and renal problems, and wide fingers and toes. Other symptoms of RTS can include vision abnormalities, muscular weakness, osteoarthritis, heart and kidney diseases, and weight gain. It is not as widespread in Arabs and South Asians as it is in Europeans.
Children with this syndrome are often born with an enlarged, deformed left hand at birth. They also suffer from malformations of the bones in their legs and arms, as well as congenital heart diseases. The condition occurs in approximately 1 out of every 2000 births.
Rubinstein-Taybi Syndrome can be diagnosed through a thorough physical examination, which should include measurements of height and weight, as well as a detailed questionnaire regarding symptoms and medical history. The medical history should include information about whether the child has had any known illnesses and infections. It will also contain information about family medical history. Family members who have been diagnosed with a particular condition can provide valuable information about the RTS case.
The diagnosis of Rubinstein-Taybi Syndrome usually requires multiple blood tests, including a test to check for iron overload. The diagnosis is made when the results of the laboratory tests show abnormalities in either of at least two areas: the bone marrow or the erythrocytes. If the bone marrow test is positive, the child may need to take iron supplements. If the erythrocytes test is positive, the patient may require a red blood cell test to confirm that the erythrocytes are not contaminated with hemoglobin.
A genetic diagnosis may be obtained using DNA analysis and a blood test called the RBM test. RBM testing measures the amount of the RBM protein in the blood. This test is most commonly used in the United Kingdom, where more than ninety percent of RTS cases have been reported.
Children with Rubinstein-Taybeh syndrome should be screened for other disorders and conditions, if detected early. Treatment options range from medications that improve muscular function to surgery that correct deformities of the bones in the limbs. In many cases, these surgeries correct specific to the syndrome can reduce disability and increase normal activity. While this syndrome is not life threatening, the loss of independence and mobility can be disruptive. If left untreated, it could result in a person being unable to function normally within society and the possibility of death due to malnutrition, infection, or complications related to other diseases.