Development
Developmental differences and intellectual disability are common reasons for evaluation and ongoing support.
Clinical Considerations for Medical Professionals
A clinical summary for coordinated care.
Jansen de Vries Syndrome (JdVS), also known as PPM1D or IDDGIP.
Clinical overview
This page summarizes areas families often encounter across specialists and support systems. It is meant to help clinicians orient quickly to common community-reported concerns and evaluation patterns.
*Disclaimer: This resource reflects foundation and family-informed guidance and should be used alongside current clinical judgment and published literature.
Features of JdVS
Presentation varies by individual. These broad areas can help guide a coordinated clinical conversation.
Behavior & Wellbeing
Anxiety, autism-spectrum features, and behavioral or emotional needs may benefit from proactive support.
Feeding & GI
Feeding challenges, constipation, and gastrointestinal concerns may require monitoring and specialty care.
Neurological & Physical
Motor, mobility, and neurological needs can be addressed through individualized assessment and therapies.
System-Based Considerations
These considerations can support coordinated baseline evaluation and ongoing multidisciplinary care.
Genetic
Initial
- Whole Exome Sequencing
- PPM1D-specific genetic testing
Ongoing
- Genetic counseling
Neurological
Initial
- Neurology consultation
- Baseline MRI and/or EEG if clinically indicated
- Physical therapy evaluation
- Occupational therapy evaluation
Ongoing
- Physical therapy
- Occupational therapy
- Orthotics or mobility supports as needed
Gastrointestinal
Initial
- Feeding assessment to evaluate suck and swallow reflex
Ongoing
- Monitor constipation, feeding issues, and cyclic vomiting symptom patterns
- Consider supplemental support resources such as the Cyclic Vomiting Syndrome Association
Psychological and Educational
Initial
- Developmental evaluation
- Neuropsychological testing when useful
Ongoing
- Academic supports and individualized planning
- Behavioral and emotional treatment as needed
Speech and Language
Initial
- Speech and language evaluation
Ongoing
- Speech and language therapy as needed
- AAC supports when indicated
Ophthalmological
Initial
- Baseline eye exam
Ongoing
- Treatment and follow-up therapies as needed