As of October 2025, CTNNB1 Syndrome has been assigned its own ICD-10 code. This marks a significant step forward in bringing visibility to this rare condition within the healthcare system. Having a dedicated code allows for more precise medical documentation, improves access to services and insurance coverage, strengthens the foundation for clinical trials, and enhances the quality of research and data collection.
What is an ICD-10 Code?
ICD-10-CM stands for International Classification of Diseases, 10th Edition, Clinical Modification. It is a standardized system of alphanumeric codes used by healthcare providers, hospitals, and insurance companies to classify and track medical conditions.
These codes are developed by the World Health Organization and maintained in the United States by the CDC. Whenever you receive medical care, your diagnoses and symptoms are recorded using ICD-10 codes. The system covers a vast range of conditions—from common diagnoses like epilepsy and food allergies to highly specific or uncommon scenarios.
These codes become part of individual medical records and are also included in large-scale healthcare databases. While these databases help researchers and healthcare systems identify trends and improve care, they do not contain personal identifying information such as names or contact details.
Why does a unique code matter?
With a dedicated ICD-10 code, healthcare providers can now accurately identify and document CTNNB1 Syndrome. In the past, individuals with this condition were often categorized under broader diagnoses such as cerebral palsy, autism, ataxia, or general developmental delay. This lack of specificity made it difficult to track the condition, study its progression, or fully understand its impact over time.
The new code changes that. It allows CTNNB1 Syndrome to be clearly defined within the healthcare system, making it easier to observe patterns, evaluate treatments, and determine appropriate care strategies. This improved clarity benefits not only clinicians and researchers but also supports better care coordination, informs treatment development, and helps families secure necessary insurance coverage.
How the code can be used:
Consider a pediatric neurologist evaluating a young child with developmental delay, low muscle tone, ataxia, and speech challenges. Without a clear diagnosis, these symptoms may initially be treated separately. However, genetic testing may reveal a CTNNB1 variant.
By referencing the ICD-10 code (Q87.88), the physician can quickly access relevant clinical information and care recommendations. They may learn that early intervention—such as speech and occupational therapy—can support communication and development, while physical therapy can help address motor difficulties like ataxia. In some cases, certain medications may also be beneficial.
The physician may also recognize associated conditions, such as Familial Exudative Vitreoretinopathy (FEVR) or tethered spinal cord, and refer the child to appropriate specialists for screening. With a clearer diagnosis, the care team can take a more coordinated and proactive approach to treatment.
How you can help:
Families and advocates play an important role in making this code meaningful. You can help by sharing the ICD-10 code with your healthcare providers and encouraging its use starting October 1, 2025. Raising awareness among other families, clinicians, and community members helps ensure consistent adoption.
Each conversation and every use of the code contributes to greater recognition and momentum—helping ensure that CTNNB1 Syndrome is no longer overlooked within the healthcare system.
What do the letters and numbers mean?
The code may appear random, but it was generated using a hierarchical system for naming codes. Here is the breakdown of our ICD-10 code:
Q = the chapter for congenital malformations, deformations, and chromosomal abnormalities
Q87 = affecting multiple systems
Q87.88 = CTNNB1 Syndrome
This new code is the result of serious teamwork, passion, and persistence from advocates, families, clinicians, and organizations who have been working toward better awareness and care for our community. It is also thanks to our donors that we can undertake critical projects, such as this one.
What did the process look like to get this code?
In late spring 2024, CTNNB1 Connect and Cure partnered with COMBINEDBrain and several CTNNB1 clinicians to develop an application for our own ICD-10 code. The application was submitted to the ICD-10 Coordination and Maintenance committee, which manages ICD-10 codes at the CDC. The CDC invited us to present our proposal on September 11, 2024. Dr. Wendy Chung, the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School, presented on our behalf. Dr. Chung, a renowned clinical and medical geneticist, also oversees the CTNNB1 Natural History Study. During this time, CTNNB1 Connect and Cure reached out to hundreds of clinicians, agencies, and academies to gather letters of support. The code was awarded and published in July 2025 and went into effect on October 1, 2025.
Whether you are directly affected by CTNNB1 Syndrome, supporting a loved one, or advocating from afar, this milestone belongs to the entire community. It represents meaningful progress—and an important step toward better understanding, care, and future treatments.
