Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Deafness
Always present (100%)HP:0000365
Congenital neurosensory deafness
Very frequent (80-99%)HP:0008527
Dorsal dupuytren nodules
Very frequent (80-99%)HP:0032541
White discoloration of nails
Very frequent (80-99%)HP:0001820
Keratoderma
Frequent (30-79%)HP:0000982
Palmoplantar keratosis
Frequent (30-79%)HP:0000972
Hearing loss, mixed
Occasional (5-29%)HP:0000410
Hyperkeratotic papule
Occasional (5-29%)HP:0045059
Related Conditions
Congenital leukonychia(parent)
Knuckle pads(parent)
Inherited disorder of keratinization(parent)
Hearing loss associated with syndrome(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary diffuse palmoplantar keratoderma(parent)
Congenital sensorineural hearing loss(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 1271009
- UMLS CUI
- C0266004
- Fully Specified Name
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 8
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.