How is Gabriele de Vries syndrome inherited?

Gabriele de Vries syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Gabriele de Vries syndrome?

Gabriele de Vries syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Gabriele de Vries syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Gabriele de Vries syndrome?

Information about treatment is currently limited for this condition.

What are the potential complications of Gabriele de Vries syndrome?

Currently, there is limited information about the specific complications that may arise from Gabriele de Vries syndrome. Because it is a rare condition, researchers are still studying how changes in the YY1 gene can affect health and development. It's important for families to work closely with healthcare providers to monitor any emerging health issues.

How might Gabriele de Vries syndrome affect daily life for my child?

Daily life for a child with Gabriele de Vries syndrome may vary since the symptoms and effects are not fully understood. Families may notice challenges in development or health that require special attention. It is essential to create a supportive environment and seek help from specialists who understand the condition.

What is the life expectancy for someone with Gabriele de Vries syndrome?

Information about life expectancy for individuals with Gabriele de Vries syndrome is currently limited. Since this condition is rare and not fully understood, researchers are still gathering data to provide clearer insights. Families should consult with healthcare providers for personalized information and support.

Are there any specialists recommended for managing Gabriele de Vries syndrome?

While specific specialists for Gabriele de Vries syndrome are not detailed, it is advisable to work with a team of healthcare providers familiar with rare genetic conditions. This may include geneticists, developmental pediatricians, and other specialists who can help monitor and support your child's health and development.

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Gabriele de Vries syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Gabriele de Vries syndrome

MONDO:0044738

Also known as:YY1 haploinsufficiency syndromeGADEVS

Overview

GeneticsAutosomal dominant · YY1 (chr 14)

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intellectual disability, Motor delay, Broad forehead, and Delayed speech and language development; and very common findings: Feeding difficulties, Thick lower lip vermilion, and Malar flattening. 53 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Dystonia, Intellectual disability, Global developmental delay

Genetic Landscape

YY1 function has not been fully characterized.

Gabriele de Vries syndrome is associated with mutations in the YY1 gene on chromosome 14.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No formal clinical diagnostic criteria exist for Gabriele-de Vries syndrome.

Suggestive Findings

The clinical spectrum of Gabriele-de Vries syndrome is variable. Gabriele-de Vries syndrome should be considered in individuals presenting with the following clinical findings.

Clinical findings

Source: GeneReviews — "Gabriele-de Vries Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Gabriele de Vries syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations and Referrals Following Initial Diagnosis Evaluation by a multidisciplinary team can be beneficial. To establish the extent of disease and needs in an individual diagnosed with Gabriele-de Vries syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Note: Some evaluations are age dependent and may not be relevant at the time of initial diagnosis. Table 2. Recommended Evaluations Following Initial Diagnosis of Gabriele-de Vries Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

A developmental pediatrician or a geneticist should coordinate the follow up of a child with Gabriele-de Vries syndrome. Surveillance of gastrointestinal, craniofacial, cardiac, renal, genital, skeletal, and endocrine abnormalities should be tailored to the affected individual according to the specific problems identified at diagnosis. Long-term follow up by other specialists is also recommended and includes the following. Table 4. Recommended Surveillance for Individuals with Gabriele-de Vries Syndrome

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Gabriele de Vries syndrome.

7 publications have been identified in PubMed for Gabriele de Vries syndrome. Research spans Case Report / Case Series (57%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (14%).

Recent Publications

Grozdanić N (2026). [PMID: 41554999](https://pubmed.ncbi.nlm.nih.gov/41554999/). *Acta neurologica Belgica*. [Case Report / Case Series]
Hollingsworth EW (2026). [PMID: 42083052](https://pubmed.ncbi.nlm.nih.gov/42083052/). *Am J Med Genet A*. [Case Report / Case Series]
Huang H (2025). [PMID: 40655401](https://pubmed.ncbi.nlm.nih.gov/40655401/). *Frontiers in endocrinology*. [Case Report / Case Series]
Pereira MF (2025). [PMID: 39987231](https://pubmed.ncbi.nlm.nih.gov/39987231/). *Molecular psychiatry*. [Basic Science / Preclinical]
Mudassir BU (2025). [PMID: 39775551](https://pubmed.ncbi.nlm.nih.gov/39775551/). *PloS one*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617557

Orphanet

European rare disease database

Orphanet:506358

GARD

Genetic and Rare Diseases Info Center

GARD:17947

Questions for Your Care Team

→Should I pursue genetic testing for YY1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Gabriele de Vries syndrome

Gabriele de Vries syndrome, also known as YY1 haploinsufficiency syndrome, GADEVS, Gabriele-De Vries syndrome, or Gabriele-de Vries syndrome, is a rare condition. It is linked to changes affecting the YY1 gene, which plays an important role in normal development. The available information on this condition is limited, and details about how it presents in people are still being explored. Because this syndrome is rare, studies and detailed descriptions of its features are still evolving. Researchers and clinicians continue to collect data to better understand how changes in the YY1 gene may influence development and overall health in people with the condition.

Information about symptoms is currently limited for this condition.

Gabriele de Vries syndrome is associated with haploinsufficiency of the YY1 gene, meaning that having only one functional copy of this gene may contribute to the condition. This genetic factor is considered a primary cause, although detailed mechanisms and additional risk factors are not well defined at this time. Associated genes include YY1.

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System/Concern	Evaluation	Comment
Neurodevelopmental	Developmental assessment	To incl eval of motor, speech/language, general cognitive, vocational skills
Craniofacial	Clinical eval for cleft palate /or micrognathia	Refer to multidisciplinary craniofacial team if cleft palate /or micrognathia present.1 Clinical assessment for craniosynostosis
Constitutional	Assessment of growth parameters to identify children w/low birth weight /or short stature	Consider endocrinologic eval, incl thyroid function tests growth hormone assessment.
Gastrointestinal	Assessment of feeding difficulties	Refer to occupational or speech therapist for feeding therapy.; Consider referral to gastroenterologist, if severe, to assess need for gastrostomy tube. Assessment for gastroesophageal reflux disease constipation
Neurologic	Neurologic eval2	W/consideration of EEG /or brain MRI; Consider referral to pediatric neurologist. Behavioral/
Psychiatric	Consider neuropsychiatric eval.	Screen persons age 12 mos for behavior concerns incl sleep disturbances, ADHD, anxiety, /or traits suggestive of ASD.
Ophthalmologic	Consider referral to ophthalmologist.	For eval of strabismus /or refraction errors
Cardiac	Consider echocardiography to evaluate for congenital heart defects.	Refer to pediatric cardiologist.
Renal	Consider baseline renal ultrasound.	To assess for renal anomalies
Genital	Clinical eval of cryptorchidism or other penile or scrotal anomalies in boys	Consider referral to pediatric urologist if cryptorchidism present.
Musculoskeletal	Clinical eval for skeletal abnormalities	Consider referral to an orthopedist if abnormalities present.
Miscellaneous/Other	Consultation w/clinical geneticist /or genetic counselor	ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder Including plastic surgeons, neurosurgeons, speech pathologists, geneticists, pediatricians, orthodontists, and other craniofacial specialists 2.
Treatment of Manifestations in Individuals with Gabriele-de Vries Syndrome Manifestation/Concern	Treatment	Considerations/Other
Cleft palate	Surgical repair	Per multidisciplinary craniofacial team1
Craniosynostosis	Surgical repair, as needed	Per a multidisciplinary craniofacial team1
Feeding difficulties	Feeding therapy /or dietary measures	Gastrostomy tube placement may be required for persistent feeding problems.
Gastroesophageal reflux disease /or constipation	Standard mgmt treatment(s)	Consider referral to a gastroenterologist, if severe.
Seizures	Standardized treatment w/ASMs by experienced neurologist2	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
Behavioral/psychiatric abnormalities	Appropriate behavior mgmt strategies /or psychotropic medications, per psychiatrist	—
Strabismus /or refraction abnormalities	Routine mgmt for ophthalmologic problems	—
Congenital heart defects	Routine treatment for cardiac abnormalities	—
Renal structural anomalies	Routine mgmt for renal abnormalities	—
Cryptorchidism	Routine mgmt for cryptorchidism	—
Skeletal anomalies	Standard treatment as recommended by orthopedist	ASM = anti-seizure medication 1. Including plastic surgeons, pediatricians, orthodontists, and other craniofacial specialists 2. Education of parents regarding common seizure presentations is appropriate.

System/Concern	Evaluation	Frequency
Constitutional	Measurement of growth parameters	At each visit until adulthood
At each visit beginning in childhood	Monitor those w/seizures	As clinically indicated Assessment of neurologic disease progression
Ophthalmologic	Ophthalmologic evaluation	As needed based on symptoms Miscellaneous/
Other	Monitor developmental progress educational needs	At each visit

Kisho

Gabriele de Vries syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Trials

Latest News & Developments

Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.

Gabriele de Vries syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Gabriele de Vries syndrome?

What are the symptoms of Gabriele de Vries syndrome?

What causes Gabriele de Vries syndrome?

How is Gabriele de Vries syndrome inherited?

How rare is Gabriele de Vries syndrome?

How is Gabriele de Vries syndrome diagnosed?

Are there treatments for Gabriele de Vries syndrome?

What are the potential complications of Gabriele de Vries syndrome?

How might Gabriele de Vries syndrome affect daily life for my child?

What is the life expectancy for someone with Gabriele de Vries syndrome?

Are there any specialists recommended for managing Gabriele de Vries syndrome?

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Trials

Latest News & Developments

Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.