Living with Thomas syndrome
A very rare genetic condition with kidney differences, heart differences, and cleft lip or palate.
Understanding Thomas syndrome
GARD says it has been described in six people. It starts during pregnancy and is noticed at birth. Low levels of amniotic fluid during pregnancy are also listed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent or small kidney
- Kidney with many cysts (multicystic dysplasia)
- Cleft palate
- Cleft upper lip
- Underdeveloped left side of the heart
- Wide-set eyes (hypertelorism)
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, genetic specialists, heart and blood vessel specialists and kidney 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); Heart and blood vessel specialists (cardiologists); Kidney specialists (nephrologists)
- 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
GARD says it may be autosomal recessive, which means a child would inherit a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: potter sequence cleft lip and palate cardiopathy syndrome; potter sequence-cleft lip/palate-cardiopathy 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
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Thomas syndrome.
Explore research for Thomas syndrome
Explore actively recruiting Thomas syndrome studies with HealthSpark.
Find actively recruiting studies for Thomas syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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