Living with Pfeiffer-Palm-Teller syndrome
A very rare condition described in two siblings, with short height, a distinct face, stiff joints, and intellectual disability.
Understanding Pfeiffer-Palm-Teller syndrome
Features include short height, unique facial features, weak tooth enamel, joints that slowly stiffen, a high-pitched voice, cup-shaped ears, and narrow eye openings with skin folds at the eye corners. People also have intellectual disability. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short height
- Intellectual disability
- Joint stiffness
- High-pitched voice
- Underdeveloped tooth enamel
- Narrow eye openings and cup-shaped ears
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes (also called variants) cause this condition. GARD doesn't list a specific gene.
Also known as: pfeiffer palm teller syndrome; ppt (pfeiffer palm teller) syndrome; ppt syndrome; short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice 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 Pfeiffer-Palm-Teller syndrome.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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