Rubinstein-Taybi Syndrome
Description
Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that affects various aspects of an individual‘s development. It is characterized by a distinctive set of physical features, intellectual disabilities, and developmental delays. While RTS is a lifelong condition, understanding its causes, diagnosis, and management can empower individuals and families to navigate its challenges and foster a fulfilling life.
Genes Involved
RTS is caused by mutations in two genes: CREBBP and EP300. These genes play a crucial role in regulating gene expression and cell growth. Mutations in these genes disrupt normal cellular processes, leading to the development of RTS.
Recognizing the Signs and Symptoms
Individuals with RTS typically exhibit a combination of the following features:
- Distinctive Facial Features: Broad thumbs and big toes, a prominent forehead, widely spaced eyes, a small chin, and a high arched palate are common.
- Growth and Development: Short stature, delayed motor development, and intellectual disability are prevalent in individuals with RTS.
- Other Symptoms: Hearing loss, heart defects, seizures, and behavioral problems may also occur.
Causes
Rubinstein-Taybi syndrome is caused by genetic mutations. In most cases, these mutations occur spontaneously and are not inherited from parents. However, there is a small chance that the condition can be passed down through families.
Inheritance/recurrence risk
The inheritance pattern of RTS is usually autosomal dominant, meaning that a single copy of the mutated gene from one parent is sufficient to cause the disorder. However, in some cases, RTS can result from new mutations, meaning the mutation is not inherited from either parent. The risk of recurrence in future pregnancies depends on the specific genetic cause of RTS in the family.
