Living with Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
A rare genetic condition with developmental delay, slow-moving bowel and bladder nerves, calcium spots in the brain, and distinct facial features.
Understanding Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
GARD describes nerve problems that slow the gut and bladder, which can lead to an enlarged bladder and sometimes a bowel that acts blocked (pseudo-obstruction). Facial features can include a broad forehead, downslanting eyes, and low-set ears. Small head size and kidney differences have also been reported. Signs start during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Calcium deposits in the brain
- Small head size (microcephaly)
- Bowel that acts blocked (pseudo-obstruction)
- Constipation
- Low muscle tone (hypotonia)
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 rare disease patient organizations for support
- 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
GARD says a child inherits a changed copy of a gene from each parent (autosomal recessive). It doesn't name the gene here.
Also known as: visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome.
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