Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Autoamputation of digits
Very frequent (80-99%)HP:0007460
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Honeycomb palmoplantar hyperkeratosis
Very frequent (80-99%)HP:0007465
Pseudoainhum
Very frequent (80-99%)HP:0009775
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Intellectual impairment
Frequent (30-79%)HP:0100543
Low gonadotropins (secondary hypogonadism)
Frequent (30-79%)HP:0000044
Abnormal nail morphology
Occasional (5-29%)HP:0001597
Abnormal toenail morphology
Occasional (5-29%)HP:0008388
Autoagression
Occasional (5-29%)HP:0100716
Breakdown of bone
Occasional (5-29%)HP:0002797
Cleft of palate
Occasional (5-29%)HP:0000175
Hair loss
Occasional (5-29%)HP:0001596
Hypoacusis
Occasional (5-29%)HP:0000365
Ichthyosiform abnormality of the skin
Occasional (5-29%)HP:0008064
Papules
Occasional (5-29%)HP:0200034
Spinal cord pathology
Occasional (5-29%)HP:0002143
Dorsal dupuytren nodules
HP:0032541
Quick Facts
- SNOMED CT
- 24559001
- UMLS CUI
- C0265964
- Fully Specified Name
- Mutilating keratoderma (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.