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Build Your Medical Appointment Handout

Fill in your child's details and print a one-page summary to share with new doctors and specialists.

Step 1: About your child
This provider may be unfamiliar with SETD5 Syndrome
Adds a brief clinical introduction to the top of the handout.
Step 2: Which features apply to your child?

The features below are drawn from published research and the lived experiences of the SETD5 Syndrome family community. Check anything that applies to your child, whether it has been formally diagnosed or is something you have observed or noticed. Only what you select will appear on the handout.

Learning & Cognition
Speech & Language
Behavior & Emotional Regulation
Social & Adaptive
Neurological & Motor
Feeding & Growth
Other Medical Features
Step 3: Anything else?

Recent changes, specific concerns, or anything you want the provider to know. Appears at the bottom of the handout.

Please check at least one feature before generating.

In the print dialog, choose "Save as PDF" to get a file.
SETD5 Syndrome · Medical Appointment
Medical Appointment Handout
setd5syndrome.live
Gene
SETD5 (3p25.3)
Inheritance
Typically de novo; can be inherited (AD)
Prevalence
<1,500 estimated globally (as of 2025)
OMIM / Registry
#615761 · Simons Searchlight
Features observed or reported by parent/caregiver
What This Provider Should Know

These items were selected by the parent or caregiver and reflect observed features. They may or may not represent formal diagnoses. Features of SETD5 Syndrome vary widely between individuals.

    For this visit
    Questions to Raise
    • What specialist referrals do you recommend based on these features?
    • How should we monitor growth, development, and any changes over time?
    • Are there baseline evaluations we should prioritize (vision, hearing, EEG, MRI)?
    • How should we coordinate care across multiple specialists?
    • Are there medications or treatments worth discussing given current symptoms?
    • Are there known medication considerations for SETD5 Syndrome?
    • What signs or changes should prompt urgent evaluation?
    • When and how often should we schedule follow-up?
    setd5syndrome.live
    For informational purposes only. Not a substitute for medical advice or diagnosis. Features listed reflect parent or caregiver observations and may not represent formal diagnoses. Always verify with your care team.