FAQs & Quick Facts
Answers to common questions
Welcome to our FAQ page, designed to address your queries about MED13L syndrome. We provide insightful answers to common questions, helping you navigate the complexities of the condition.
Our focus is to empower you with knowledge and support, as you join a community dedicated to understanding and managing MED13L syndrome.
Medical Information & Diagnosis
The MED13L gene is a fundamental component of our genetic structure. It plays a crucial role in regulating the expression of other genes and is associated with various biological functions.
MED13L syndrome is a rare genetic condition resulting from mutations or variants in the MED13L gene. It is characterized by intellectual disabilities and a range of developmental challenges.
Diagnosing MED13L syndrome involves genetic testing, primarily through whole-exome sequencing (WES) or whole-genome sequencing (WGS) to identify mutations or variants in the MED13L gene.
As of October 1st, 2023, the ICD-10 code for MED13L syndrome (MED13L) is Q87.85. This code is essential for accurate diagnosis and medical coding for individuals with this condition.
Co-Diagnosis
Yes. A genetic diagnosis does not replace or cancel out other diagnoses.
Many children with MED13L Syndrome also receive diagnoses such as autism or cerebral palsy (CP). This does not mean earlier doctors were wrong, and it does not mean families should stop pursuing evaluations once MED13L is identified.
Key takeaway
• Co-diagnoses are common and valid
• Genetic diagnoses explain the “why” but do not replace functional diagnoses
• Multiple diagnoses often improve access to care and supports
• Continuing evaluations can help children receive more appropriate therapies
You can watch Dr. Bain’s MED13L presentation here, where she explains this clearly and validates why many families use diagnoses like CP as tools to support their child’s care
https://youtu.be/xB_RMM71rb8
At our 2025 MED13L community meetup, pediatric neurologist Jennifer Bain explained that CP is a clinical motor diagnosis, not a cause. It describes early onset motor differences such as delayed sitting or walking, abnormal muscle tone, coordination challenges, or spasticity. CP is also a spectrum, similar to autism.
Even when motor challenges are caused by a neurological condition related to MED13L, a child can still meet criteria for a CP diagnosis. Receiving a genetic diagnosis does not negate CP.
Importantly, CP is often practically helpful. Schools, therapists, and insurance providers understand CP, and the diagnosis can make access to physical therapy, occupational therapy, adaptive equipment, school supports, and disability benefits much easier.
Some children with MED13L also meet criteria for autism. Caregiver reported data from RARE-X shows that many children fall under the broader umbrella of global developmental delay and intellectual disability, with overlapping features that may lead to an autism diagnosis.
Ongoing collaboration with the Simons Foundation and early findings from the MED13L Natural History Study are helping clarify how motor differences, spasticity, and neurodevelopmental features intersect in MED13L.
Apraxia of speech is common in individuals with MED13L syndrome and is often a primary reason for delayed or limited verbal communication. Childhood apraxia of speech is a motor-planning disorder in which the brain has difficulty coordinating the movements needed to produce speech, even though the muscles themselves are not weak.
For individuals with MED13L syndrome, apraxia is frequently neurologically based and can be more complex than a typical speech delay. Receiving an accurate diagnosis—both of MED13L syndrome and of apraxia—is critical because it directly impacts the type of speech therapy that will be most effective.
Traditional speech therapy approaches designed for articulation or phonological delays may be insufficient. Instead, individuals with apraxia related to MED13L often benefit from motor-based, high-repetition, and structured speech therapy approaches, as well as the early introduction of augmentative and alternative communication (AAC) to support language development while speech skills are emerging.
A correct diagnosis helps families and clinicians move away from trial-and-error therapy and toward targeted, evidence-informed interventions, improving communication outcomes and reducing frustration for the individual and their caregivers.
Treatment & Management
Treatment for MED13L syndrome is personalized and may encompass therapies such as speech and occupational therapy, educational support, and the management of associated medical issues. The MED13L Foundation is actively supporting multidisciplinary research initiatives to discover therapeutics to lessen the impact of the symptoms of MED13L syndrome.
Individuals with MED13L syndrome may benefit from a multidisciplinary healthcare team, including geneticists, neurologists, cardiologists, developmental pediatricians, speech therapists, and occupational therapists, vision therapists, among others.
Genetic & Development Aspects
MED13L genetic variants can occur spontaneously or be inherited from parents. These variants typically do not relate to any specific actions or lifestyle choices.
MED13L syndome can be inherited from parents or arise spontaneously due to de novo mutations. Genetic counseling is recommended for families with a history of MED13L.
MED13L syndrome is also known by other names, including MED13L haploinsufficiency syndrome, 12q24.21, MED13L, PROSIT240, THRAP2, TRAP240L. It is most commonly referred to as MED13L
Prognosis & Support
There is currently no evidence to suggest that MED13L disproportionately affects one gender over the other. It can occur in individuals of any gender.
The future for individuals with MED13L can vary widely depending on the severity of their symptoms and the support they receive. Early intervention and comprehensive care can greatly improve outcomes.
No, the severity of MED13L syndrome can vary significantly among individuals. Some may have milder symptoms, while others may experience more profound challenges. Each person’s experience with MED13L is unique.
