Cabezas Syndrome Foundation Inc

Help find a cure for Cabezas Syndrome, advocate and promote disease awareness.

About

Cabezas Syndrome is a complex rare genetic condition with a variety of symptoms and challenges.  Also known as an X-linked intellectual disability, Cabezas type, it is caused by mutations in the CUL4B gene located on the X chromosome. This gene plays a crucial role in the regulation of protein degradation within cells. The syndrome is inherited in an X-linked manner, meaning that males are predominantly affected, while females may be carriers and are often asymptomatic. 

Individuals with Cabezas syndrome may exhibit a range of symptoms, including:

• Intellectual Disability: Varying degrees of intellectual impairment, often severe, with significant speech delays.
• Developmental Delays: Delays in reaching developmental milestones during childhood.
• Physical Abnormalities: Short stature, small hands and feet, and distinctive facial features such as a prominent lower lip and low-set ears.
• Neurological Issues: Tremors, seizures, gait abnormalities, and behavioral disturbances, including hyperactivity and aggression. 
• Other Features: Hypogonadism, truncal obesity, and potential urogenital anomalies. 

Ongoing research and genetic studies are essential for better understanding the syndrome and improving care for affected individuals.

Mission

The mission of the Cabezas Syndrome Foundation is to help find treatments and a cure for Cabezas Syndrome (CUL4B mutation), advocate for the Cabezas community both locally and internationally, promote disease awareness, and provide a compassionate environment for patients and their families.

Goals

• Funding for Cabezas Syndrome research and assist in creating partnerships between the academic research community and the biotech industry to drive new treatments
• Fostering collaboration in the clinical community to share information and ideas to improve channels of communication between researchers
• Sponsoring a series of web-based educational seminars (“webinars”) to bring the latest information and research to patients and families more efficiently
• Continuing our commitment to strongly advocate for the Cabezas community both locally, nationally and internationally
• Aggressively pursuing an increase in public awareness through a series of public service announcements (PSA), social networking, and traditional media exposure

We hope with these ambitious goals that we will ultimately achieve our main goal of finding a cure for this disease.