Papillon-Lefèvre syndrome
- Synonyms
- Hyperkeratosis palmoplantaris with periodontosis; Keratoris palmoplantaris with periodontopathia; Keratosis palmoplantaris with periodontopathia; Palmar-plantar hyperkeratosis and concomitant periodontal destruction; Palmoplantar keratoderma with periodontosis; Papillon-Lefevre Disease; Papillon-Lefevre Syndrome
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (27 available)
Clinical features
Help- Abnormality of head or neck
- Atrophy of alveolar ridges
Atrophy of alveolar ridges
- MedGen UID: 343399
- Concept ID: C1855642
- Finding: Finding
Abnormality of head or neck
- Premature loss of teeth
Premature loss of teeth
- MedGen UID: 66678
- Concept ID: C0232513
- Finding: Finding
Abnormality of head or neck
- Atrophy of alveolar ridges
- Abnormality of limbs
- Palmoplantar keratosis
Palmoplantar keratosis
- MedGen UID: 44017
- Concept ID: C0022596
- Finding: Disease or Syndrome
Abnormality of limbs
- Palmoplantar keratosis
- Abnormality of the immune system
- Severe periodontitis
Severe periodontitis
- MedGen UID: 871390
- Concept ID: C4025886
- Finding: Disease or Syndrome
Abnormality of the immune system
- Severe periodontitis
- Abnormality of the musculoskeletal system
- Choroid plexus calcification
Choroid plexus calcification
- MedGen UID: 354924
- Concept ID: C1863184
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Choroid plexus calcification
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.