Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Palmoplantar keratosis
Always present (100%)HP:0000972
Dystrophic nails
Very frequent (80-99%)HP:0008404
Hyperplastic callus formation
Very frequent (80-99%)HP:0030268
Keratoderma
Very frequent (80-99%)HP:0000982
Lower limb pain
Very frequent (80-99%)HP:0012514
Onychogryphosis of toenails
Very frequent (80-99%)HP:0008401
Palmoplantar blistering
Very frequent (80-99%)HP:0007446
Cutaneous cyst
Frequent (30-79%)HP:0025245
Dysplastic fingernails
Frequent (30-79%)HP:0100798
Hyperhidrosis of palms and soles
Frequent (30-79%)HP:0007410
Hyperkeratosis follicularis
Frequent (30-79%)HP:0007502
Keratin cyst
Frequent (30-79%)HP:0200040
Linear arrays of macular hyperkeratoses in flexural areas
Frequent (30-79%)HP:0007490
Onychogryphosis of fingernail
Frequent (30-79%)HP:0040036
Oral white plaque
Frequent (30-79%)HP:0002745
Palmar hyperkeratosis
Frequent (30-79%)HP:0010765
Steatocystoma multiplex
Frequent (30-79%)HP:0012035
Ear pain
Occasional (5-29%)HP:0030766
Eruptive vellus hair cyst
Occasional (5-29%)HP:0025248
Feeding difficulties
Occasional (5-29%)HP:0011968
Natal tooth
Occasional (5-29%)HP:0000695
Paronychia
Occasional (5-29%)HP:0001818
Postnatal failure to thrive
Occasional (5-29%)HP:0001508
Premature tooth eruption
Occasional (5-29%)HP:0006288
Hair loss
Very rare (1-4%)HP:0001596
Husky voice
Very rare (1-4%)HP:0001609
Inflammation of oral commisures
Very rare (1-4%)HP:0030318
Laboured breathing
Very rare (1-4%)HP:0002098
Dystrophic thickened nails
HP:0001805
Related Conditions
Pachyonychia congenita type II of Jackson-Lawler(child)
Pachyonychia congenita type III of Schafer-Brunauer(child)
Congenital anomaly of nail(parent)
Genodermatosis(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Hereditary palmoplantar keratoderma(parent)
Degenerative skin disorder(parent)
Skin lesion(parent)
Degenerative disorder of extremity(parent)
Quick Facts
- SNOMED CT
- 39427000
- UMLS CUI
- C0265334
- Fully Specified Name
- Pachyonychia congenita syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.