Clinical Genetics · Koolen-de Vries Syndrome

Building Your Care Team & Surveillance Schedule

At a Glance

Managing Koolen-de Vries Syndrome requires a multidisciplinary medical team, including a geneticist, neurologist, and various pediatric specialists. Parents should follow a structured surveillance schedule for cardiac, renal, vision, and bone health, and maintain a Care Binder to organize medical records for emergencies.

Managing a child’s care with Koolen-de Vries Syndrome (KdVS) often feels like being the “project manager” of a complex team. Because KdVS is a multisystem disorder, it requires input from various medical experts to ensure every part of your child’s health is supported ^[1]^[2]. While the list of specialists can seem long, not every doctor needs to be seen every month. Most children follow a “surveillance schedule” that spaces out evaluations based on their age and specific needs.

Your Core Multidisciplinary Team

Building a strong team early on helps ensure that no part of your child’s development is overlooked. Key members typically include:

Clinical Geneticist: Helps coordinate the initial diagnosis and provides the most up-to-date research on KdVS ^[3].
Genetic Counselor: Essential for helping parents process the emotional impact of a diagnosis and explaining recurrence risks ^[3].
Pediatric Neurologist: Monitors for hypotonia (low muscle tone) and epilepsy (seizures) ^[4]^[5].
Pediatric Ophthalmologist: Evaluates vision and eye alignment (ptosis or strabismus) ^[6].
Pediatric Orthopedist: Screens for scoliosis and other bone or joint issues ^[7].
Therapy Team: Includes Speech-Language Pathologists (crucial for AAC and language support), Physical Therapists, and Occupational Therapists ^[8].

The Surveillance Checklist: What to Expect and When

Medical consensus suggests a proactive approach to monitoring. Use the following timeline as a guide for your child’s medical appointments:

System	Baseline (At Diagnosis)	Childhood (Ongoing)	Key Milestones (Ages 10 & 18)
Orthopedic	Baseline clinical exam (X-ray if indicated) ^[7]	Clinical exam at every check-up	Routine clinical exams (X-rays if indicated) ^[7]
Vision	Full eye exam ^[6]	Annual or bi-annual follow-up	Monitor as needed for glasses or ptosis
Neurological	Clinical evaluation	EEG if staring spells occur ^[4]	Sleep EEG if skills plateau/regress ^[9]
Cardiac	Baseline Echocardiogram ^[1]	As recommended by specialist	Typically no routine screening required if baseline is clear, but follow up if new symptoms arise
Renal	Baseline Kidney Ultrasound ^[1]	As recommended by specialist	Typically no routine screening required if baseline is clear, but follow up if new symptoms arise
Growth	Baseline growth chart	Regular height/weight monitoring	Height/weight monitoring (risk of obesity) ^[10]

Tips for Vetting and Managing Your Team

As the “project manager,” you are the expert on your child. When choosing doctors, look for those who:

Listen and Validate: They should respect your observations as the primary caregiver.
Understand Rare Disease: While they may not have seen KdVS before, they should be willing to read the literature and collaborate with other experts.
Support Care Coordination: They should be willing to send reports to your primary pediatrician, who often acts as the “medical home” to centralize all information ^[2].

Organizing Medical Records

Because your child will have many reports, tests, and therapy notes, keeping a “Medical Summary” or “Care Binder” is highly recommended. Include:

A copy of the genetic test result (CMA or WES/WGS).
Recent specialist reports (Neurology, Cardiology, etc.).
The most recent IEP or therapy goals.
A log of any unusual behaviors or potential seizure activity.

Important Tip: We highly recommend bringing your Care Binder to the Emergency Room. Because KdVS is rare, ER physicians may not be familiar with it, and a concise summary is incredibly valuable during acute illnesses ^[2]. Resources like the Koolen-de Vries Syndrome Foundation can provide additional tools, such as “Natural History Studies,” which help doctors understand how the syndrome progresses over time ^[11].

Common questions in this guide

Which medical specialists should be on my child's KdVS care team?

A comprehensive care team typically includes a clinical geneticist, pediatric neurologist, ophthalmologist, orthopedist, and a specialized therapy team. This multidisciplinary group works together to monitor and support all aspects of your child's development and health.

How often does my child need medical screening for KdVS?

Surveillance depends on your child's age, but baseline tests including an echocardiogram, kidney ultrasound, and eye exams are done at diagnosis. Regular follow-ups for vision, orthopedics, growth, and neurology continue throughout childhood.

When should my child with KdVS get an EEG to check for seizures?

While clinical neurological evaluations are standard, an EEG is recommended if you notice staring spells. Additionally, a sleep EEG should be performed if your child's skills plateau or begin to regress.

What is the best way to organize my child's complex medical records?

It is highly recommended to create a Care Binder containing genetic test results, specialist reports, therapy goals, and a log of unusual behaviors. Bringing this binder to every appointment and emergency room visit helps quickly educate doctors about your child's rare condition.

Who should coordinate my child's medical care and specialists?

Your child's primary pediatrician typically acts as the 'medical home' to centralize all information. They work collaboratively with your clinical geneticist to coordinate referrals, track growth, and oversee the overarching care plan.

Curated prompts to bring to your next appointment.

1.Who will serve as the lead 'care coordinator' or medical home for my child’s multiple specialists?
2.Can you provide a referral for a pediatric ophthalmologist and a pediatric orthopedist who are comfortable managing children with rare genetic syndromes?
3.What is our specific plan for monitoring for seizures, and at what point would we move from clinical observation to an EEG?
4.Are there any local or regional 'complex care' clinics that specialize in multisystem genetic disorders?
5.How often should we review my child's growth charts to monitor for potential endocrine issues or weight gain?

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References (11)

1
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, et al.
BMC medical genetics 2015; (16()):68 doi:10.1186/s12881-015-0211-0.
PMID: 26293599
2
Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.
Huang H, Geng J, Long Y, et al.
Molecular genetics and genomics : MGG 2025; (301(1)):10 doi:10.1007/s00438-025-02322-x.
PMID: 41457108
3
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Sabo A, Murdock D, Dugan S, et al.
Molecular genetics & genomic medicine 2020; (8(10)):e1439 doi:10.1002/mgg3.1439.
PMID: 32767738
4
Reevaluating Electroencephalography Monitoring in Koolen-de Vries Syndrome: A Case of Delayed Focal Impaired Consciousness Seizure Diagnosis.
Nazari R, Nayeni M, Sakhamuru P, et al.
Cureus 2025; (17(5)):e83693 doi:10.7759/cureus.83693.
PMID: 40486408
5
Koolen-de Vries Syndrome: Preliminary Observations of Topiramate Efficacy.
Paolo P, Matteo F, Rossella L, et al.
Child neurology open 2021; (8()):2329048X211019183 doi:10.1177/2329048X211019183.
PMID: 34124281
6
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
Prat D, Katowitz WR, Strong A, Katowitz JA
Ophthalmic genetics 2021; (42(2)):186-188 doi:10.1080/13816810.2020.1868012.
PMID: 33393407
7
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
Bouman A, Bouwmeester RN, van Vlimmeren LA, et al.
American journal of medical genetics. Part A 2023; (191(9)):2346-2355 doi:10.1002/ajmg.a.63334.
PMID: 37350176
8
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.
St John M, van Reyk O, Koolen DA, et al.
European journal of human genetics : EJHG 2023; (31(5)):531-540 doi:10.1038/s41431-022-01230-7.
PMID: 36529818
9
Koolen-de Vries syndrome associated with continuous spike-wave in sleep
Khan AQ, Coorg RK, Gill D, et al.
Epileptic disorders : international epilepsy journal with videotape 2022; (24(5)):928-933 doi:10.1684/epd.2022.1452.
PMID: 35811432
10
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, et al.
Journal of medical genetics 2022; (59(2)):189-195 doi:10.1136/jmedgenet-2020-107225.
PMID: 33361104
11
Koolen-de Vries Syndrome: a journey from diagnosis to treatments.
Pfalzer AC, Ivers B, Haynam A, et al.
Therapeutic advances in rare disease 2024; (5()):26330040241265414 doi:10.1177/26330040241265414.
PMID: 39081270

This page provides general guidelines for building a care team and surveillance schedule for Koolen-de Vries Syndrome. Always consult your child's primary care pediatrician or geneticist for a personalized medical management plan.

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