Overview
Cockayne syndrome type 1 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Always present (100%)HP:0001263
Decreased body height
Always present (100%)HP:0004322
Joint contracture
Always present (100%)HP:0034392
Large nose
Always present (100%)HP:0000448
Sensorineural deafness
Always present (100%)HP:0000407
Short stature, severe
Always present (100%)HP:0003510
Abnormal liver function
Very frequent (80-99%)HP:0002910
Basal ganglion calcification
Very frequent (80-99%)HP:0002135
Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Deep set eye
Very frequent (80-99%)HP:0000490
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Foot joint contracture
Very frequent (80-99%)HP:0008366
Growth delay as children
Very frequent (80-99%)HP:0008897
Hypoacusis
Very frequent (80-99%)HP:0000365
Malformation of face
Very frequent (80-99%)HP:0001999
No auditory brainstem response
Very frequent (80-99%)HP:0004463
Pigmentary retinopathy
Very frequent (80-99%)HP:0000580
Poor school performance
Very frequent (80-99%)HP:0001249
RPE irregularity
Very frequent (80-99%)HP:0007814
Undergrowth
Very frequent (80-99%)HP:0001508
Abnormal peripheral nerve transmission
Frequent (30-79%)HP:0003134
Ataxia
Frequent (30-79%)HP:0001251
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Cataract
Frequent (30-79%)HP:0000518
Cerebral atrophy
Frequent (30-79%)HP:0002059
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased tear secretion
Frequent (30-79%)HP:0000633
Dental cavities
Frequent (30-79%)HP:0000670
Dental problems
Frequent (30-79%)HP:0000164
Related Conditions
Quick Facts
- SNOMED CT
- 890433006
- UMLS CUI
- C0751039
- Fully Specified Name
- Cockayne syndrome type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.