Overview
Cockayne syndrome type 2 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.
Decreased size of cranium
Always present (100%)HP:0000252
Deep set eye
Always present (100%)HP:0000490
Inverted triangular face
Always present (100%)HP:0000325
Polyneuropathy
Always present (100%)HP:0001271
Postnatal failure to thrive
Always present (100%)HP:0001508
Prominent nasal root
Always present (100%)HP:0000426
Reduced subcutaneous adipose tissue
Always present (100%)HP:0003758
Sensorineural deafness
Always present (100%)HP:0000407
Short penis
Always present (100%)HP:0000054
Dull intelligence
Very frequent (80-99%)HP:0001249
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Malformation of face
Very frequent (80-99%)HP:0001999
Neurodevelopmental delay
Very frequent (80-99%)HP:0012758
Patchy demyelination of subcortical white matter
Very frequent (80-99%)HP:0002545
Subcortical white matter calcifications
Very frequent (80-99%)HP:0007346
Abnormal retropulsion test
Frequent (30-79%)HP:0002172
Ataxia
Frequent (30-79%)HP:0001251
Dental cavities
Frequent (30-79%)HP:0000670
Gait disturbance
Frequent (30-79%)HP:0001288
Hypertrophy of mandible
Frequent (30-79%)HP:0000303
Pigmentary retinal deposits
Frequent (30-79%)HP:0000580
Progeroid facial appearance
Frequent (30-79%)HP:0005328
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Absence of eyeballs
Occasional (5-29%)HP:0000528
Appendicular hypertonia
Occasional (5-29%)HP:0002509
Congenital cataracts, bilateral
Occasional (5-29%)HP:0000519
Conjunctivitis
Occasional (5-29%)HP:0000509
Decreased size of milk teeth
Occasional (5-29%)HP:0006334
Delayed primary teeth eruption
Occasional (5-29%)HP:0000680
Dysplasia of tooth enamel
Occasional (5-29%)HP:0006297
Related Conditions
Quick Facts
- SNOMED CT
- 890434000
- UMLS CUI
- C0751038
- Fully Specified Name
- Cockayne syndrome type 2 (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.