Definition of GorBBB Syndrome
GorBBB Syndrome, also known as Gorlin-Brachydactyly-Bifid Thumb Syndrome, is a rare genetic disorder characterized by a combination of physical abnormalities affecting the skeletal, facial, and cardiac systems.
Key Features
GorBBB Syndrome is primarily identified by the presence of:
- Gorlin Syndrome: Individuals with GorBBB Syndrome may exhibit features similar to those seen in Gorlin Syndrome, including multiple basal cell carcinomas, keratocysts in the jaw, and palmar or plantar pits.
- Brachydactyly: Brachydactyly refers to unusually short fingers or toes due to underdevelopment of the phalanges. In GorBBB Syndrome, affected individuals typically have shortened thumbs or additional fingers known as polydactyly.
- Bifid Thumb: Bifid Thumb, or a divided thumb, is a characteristic feature of GorBBB Syndrome. The thumb may have an abnormal cleft or split, giving it a forked appearance.
Other Associated Findings
In addition to the main features, individuals with GorBBB Syndrome may also present with:
- Facial Abnormalities: Certain facial characteristics may be observed, such as a broad forehead, wide-set eyes, a flat midface, and a short nose with a broad tip.
- Cardiac Anomalies: Some individuals may have congenital heart defects, such as atrial or ventricular septal defects, which are abnormalities in the walls separating the chambers of the heart.
- Intellectual Disability: While not always present, intellectual disability can be associated with GorBBB Syndrome.
Treatment and Outlook
As GorBBB Syndrome is a complex condition with varied symptoms, treatment depends on the specific needs of each individual. Multidisciplinary approaches involving healthcare professionals from various specialties may be required.
The outlook for individuals with GorBBB Syndrome varies depending on the severity of the condition and associated complications. Regular medical follow-ups and appropriate interventions can help manage the symptoms and improve the overall quality of life.