Living with Gabriele de Vries syndrome
A genetic condition present at birth that can affect development, movement, facial features, and sometimes the eyes, heart, kidneys, and joints.
Understanding Gabriele de Vries syndrome
People with this syndrome may have delays in development and intellectual disability, and problems with movement and walking. Some have distinct facial features, such as a broad forehead or a small lower jaw. Some also have eye, kidney, heart, or joint problems, or behavioral differences such as autism, hyperactivity, or anxiety.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Delayed speech and language
- Delayed walking
- Low muscle tone (hypotonia)
- Feeding difficulties in infancy
- Facial differences, such as a broad forehead or uneven face
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in YY1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the YY1 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough to cause it.
Also known as: gabriele-de vries syndrome; yy1 haploinsufficiency syndrome
Patient organizations
- Simons SearchlightGabriele de Vries syndrome · United States
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