Living with Pierpont syndrome
A rare genetic condition with low muscle tone, feeding trouble, developmental delay, seizures, and unusual fat pads on the feet.
Understanding Pierpont syndrome
Babies have low muscle tone after birth, feeding difficulties that last, and moderate to severe developmental delay. Seizures, especially absence seizures, can occur. A distinctive feature is fat pads on the soles near the heels, which may become less noticeable over time. There are also certain facial features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Feeding difficulties
- Delays in development
- Intellectual disability
- Fat pads on the soles near the heels
- Deep creases on the palms and soles
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 TBL1XR1 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 TBL1XR1 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: plantar lipomatosis-facial dysmorphism-developmental delay syndrome; plantar lipomatosis-unusual facies-developmental delay syndrome; plantar lipomatosis, facial dysmorphism, developmental delay syndrome; prpts
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 Pierpont syndrome.
Explore research for Pierpont syndrome
Explore actively recruiting Pierpont syndrome studies with HealthSpark.
Find actively recruiting studies for Pierpont 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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