Overview
Pfeiffer-Palm-Teller syndrome, also known as onychodystrophy with absence of distal phalanges, is an extremely rare genetic condition that primarily affects the nails and the bones at the tips of the fingers and toes. People with this syndrome are typically born with absent or severely underdeveloped nails (a condition called anonychia or onychodystrophy) along with missing or shortened end bones (distal phalanges) of the fingers and toes. The condition was first described in medical literature by Pfeiffer, Palm, and Teller, and only a very small number of families have been reported worldwide. Because this condition mainly affects the hands and feet, most individuals can lead relatively normal lives, though they may experience some difficulties with fine motor tasks such as gripping small objects. The cosmetic appearance of the fingertips and toenails can also be a concern for affected individuals. There is no cure for this syndrome, and treatment is focused on managing symptoms and supporting hand function. Occupational therapy may help improve fine motor skills, and cosmetic options for nails may be discussed with a dermatologist. Genetic counseling is recommended for affected families to understand the chance of passing the condition to future children.
Key symptoms:
Absent or severely underdeveloped fingernailsAbsent or severely underdeveloped toenailsMissing or shortened bones at the tips of fingersMissing or shortened bones at the tips of toesShort fingertipsDifficulty with fine motor tasks like picking up small objectsAbnormal appearance of the ends of fingers and toes
Clinical phenotype terms (9)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pfeiffer-Palm-Teller syndrome.
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Specialists
View all specialists →No specialists are currently listed for Pfeiffer-Palm-Teller syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pfeiffer-Palm-Teller syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests can confirm the diagnosis of Pfeiffer-Palm-Teller syndrome?,Is genetic testing available to identify the cause in our family?,What is the chance of passing this condition to future children?,Would occupational therapy help improve hand function?,Are there cosmetic options for the absent nails?,Should we schedule regular follow-up appointments, and how often?,Are there any related conditions we should be screened for?
Common questions about Pfeiffer-Palm-Teller syndrome
What is Pfeiffer-Palm-Teller syndrome?
Pfeiffer-Palm-Teller syndrome, also known as onychodystrophy with absence of distal phalanges, is an extremely rare genetic condition that primarily affects the nails and the bones at the tips of the fingers and toes. People with this syndrome are typically born with absent or severely underdeveloped nails (a condition called anonychia or onychodystrophy) along with missing or shortened end bones (distal phalanges) of the fingers and toes. The condition was first described in medical literature by Pfeiffer, Palm, and Teller, and only a very small number of families have been reported worldwide
How is Pfeiffer-Palm-Teller syndrome inherited?
Pfeiffer-Palm-Teller syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pfeiffer-Palm-Teller syndrome typically begin?
Typical onset of Pfeiffer-Palm-Teller syndrome is neonatal. Age of onset can vary across affected individuals.