Living with Prieto syndrome
An X-linked genetic condition with intellectual disability, brain changes, dental differences and distinctive facial features.
Understanding Prieto syndrome
Features include shrinking of part of the brain (subcortical cerebral atrophy), dental differences, a kneecap that slips out of place, a skin dimple in the lower back and distinctive facial features. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone
- Loss of brain tissue (cerebral atrophy)
- Kneecap that slips out of place
- Club feet
- Crossed eyes and drooping eyelids
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 WNK3 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 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
Changes in the WNK3 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: prieto syndrome, x-linked recessive; prieto-badia-mulas syndrome; x-linked intellectual disability-dysmorphism-cerebral atrophy 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 Prieto syndrome.
Explore research for Prieto syndrome
Explore actively recruiting Prieto syndrome studies with HealthSpark.
Find actively recruiting studies for Prieto syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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