Living with PHAVER syndrome
A rare inherited condition present from birth with webbing of the limbs, heart differences, and bone and ear differences.
Understanding PHAVER syndrome
The name stands for limb pterygia (webbing), heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies, and radial defects (forearm bone differences). Signs are seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Differences in the spine bones (vertebrae)
- Hole between the lower heart chambers
- Hearing loss from the middle ear
- Low-set, backward-rotated ears
- Broad thumbs, sometimes with three bones
- Joint stiffness
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: phaver (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome; powell chandra saal syndrome; powell-chandra-saal syndrome; pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect 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 PHAVER syndrome.
Explore research for PHAVER syndrome
Explore actively recruiting PHAVER syndrome studies with HealthSpark.
Find actively recruiting studies for PHAVER 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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