Summary about Disease
Broad thumb-hallux syndrome (also known as Rubinstein-Taybi syndrome, RSTS) is a rare genetic disorder characterized by distinctive facial features, broad thumbs and great toes, short stature, intellectual disability, and a predisposition to certain medical problems. The severity of the syndrome varies among individuals.
Symptoms
Broad thumbs and great toes
Distinctive facial features (e.g., downslanting palpebral fissures, arched eyebrows, prominent nose, small mouth)
Short stature
Intellectual disability (ranging from mild to severe)
Feeding difficulties in infancy
Cardiac defects
Ocular abnormalities (e.g., cataracts, glaucoma)
Dental problems
Increased risk of certain tumors (e.g., meningiomas, leukemia)
Causes
RSTS is primarily caused by mutations in the CREBBP or EP300 genes. These genes play a critical role in regulating gene expression and are involved in development. In some cases, the cause of RSTS is unknown. The condition is typically not inherited; rather it arises as a new (de novo) mutation.
Medicine Used
There is no specific cure for RSTS. Treatment is focused on managing the individual symptoms and complications that arise. This may include:
Growth hormone therapy: To address short stature.
Cardiac medications/surgery: To correct heart defects.
Ophthalmological interventions: To manage eye problems.
Dental care: Addressing dental abnormalities.
Educational and behavioral therapies: To support intellectual disability and developmental delays.
Medications for specific conditions: Addressing issues such as seizures, if present.
Is Communicable
No, broad thumb-hallux syndrome (Rubinstein-Taybi syndrome) is not communicable. It is a genetic disorder and cannot be transmitted from person to person.
Precautions
There are no specific precautions to prevent RSTS, as it is a genetic condition that is usually not inherited. Genetic counseling may be considered for families with a child diagnosed with RSTS, especially if there is a family history of similar features. Monitoring for potential complications, such as cardiac defects or tumors, is important.
How long does an outbreak last?
Since Rubinstein-Taybi Syndrome is not communicable there is no outbreak and it is a genetic condition that lasts for a lifetime.
How is it diagnosed?
RSTS is typically diagnosed based on a combination of clinical findings (distinctive facial features, broad thumbs and toes, developmental delays) and genetic testing. Genetic testing can identify mutations in the CREBBP or EP300 genes, confirming the diagnosis. Chromosomal microarray analysis may be used to detect deletions or duplications in the region of these genes.
Timeline of Symptoms
Prenatal: Sometimes, unusual fetal movements or other anomalies may be detected during prenatal ultrasound.
Infancy: Feeding difficulties, hypotonia (low muscle tone), characteristic facial features are often noticeable.
Early Childhood: Developmental delays become apparent, broad thumbs and toes are evident, short stature.
Later Childhood/Adulthood: Continued developmental delays, learning disabilities, behavioral challenges, increased risk of certain medical conditions. The symptoms evolve and become more defined as the child grows.
Important Considerations
Multidisciplinary Care: Individuals with RSTS require comprehensive care from a team of specialists, including geneticists, pediatricians, cardiologists, ophthalmologists, dentists, and therapists.
Early Intervention: Early intervention services (e.g., physical therapy, occupational therapy, speech therapy) are crucial to maximize developmental potential.
Ongoing Monitoring: Regular medical check-ups are essential to monitor for potential complications.
Family Support: Support groups and resources can provide valuable information and emotional support for families affected by RSTS.
Variability: The severity of RSTS varies considerably between individuals.