Living with DeSanto-Shinawi syndrome due to WAC point mutation
A rare genetic condition linked to the WAC gene, with developmental delay, distinct facial features, and behavior and digestion differences.
Understanding DeSanto-Shinawi syndrome due to WAC point mutation
It starts in infancy or early childhood. Facial features include a broad forehead, a flat nasal bridge with a round tip, and deep-set eyes. For most people it also affects digestion, sight, and behavior.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Distinct facial features
- Constipation
- Crossed eyes (strabismus)
- Anxiety
- ADHD and behavior differences
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 WAC 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 WAC gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: dessh; developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities; facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation
Patient organizations
- Simons SearchlightDeSanto-Shinawi syndrome due to WAC point mutation · United States
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