Living with Holzgreve-Wagner-Rehder syndrome
A rare genetic condition seen before birth, with low amniotic fluid, heart defects, cleft palate, extra fingers, and bone differences.
Understanding Holzgreve-Wagner-Rehder syndrome
It includes Potter sequence, which involves low amniotic fluid and small kidneys or lungs. It also includes a heart defect, cleft palate, extra fingers, and bone differences. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low amniotic fluid (oligohydramnios)
- Small or missing kidneys
- Small or missing lungs
- Cleft palate
- Extra fingers (polydactyly)
- Slow growth before birth
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation and other patient organizations
- 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 genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cleft palate-potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome; cleft palate, potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome; holzgreve syndrome; holzgreve wagner rehder syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Holzgreve-Wagner-Rehder syndrome.
Explore research for Holzgreve-Wagner-Rehder syndrome
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- Recruiting studies from ClinicalTrials.gov
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