Overview
Cerebro-oculo-facio-skeletal syndrome 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.
Abnormal deposits of calcium in the brain
Very frequent (80-99%)HP:0002514
Abnormal nasal morphology
Very frequent (80-99%)HP:0005105
Arthrogryposis multiplex
Very frequent (80-99%)HP:0002804
Cerebellar hypoplasia/atrophy
Very frequent (80-99%)HP:0007360
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
Hypertonia
Very frequent (80-99%)HP:0001276
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Lens opacities
Very frequent (80-99%)HP:0000518
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Nanophthalmos
Very frequent (80-99%)HP:0000568
Prominent frontal suture
Very frequent (80-99%)HP:0005487
Protruding lower lip
Very frequent (80-99%)HP:0000232
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Stiff joint
Very frequent (80-99%)HP:0001387
Abnormality of immune system physiology
Frequent (30-79%)HP:0010978
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Decreased activity of gonads
Frequent (30-79%)HP:0000135
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Poor vision
Frequent (30-79%)HP:0000505
Reduced tendon reflexes
Frequent (30-79%)HP:0001315
Seizures
Frequent (30-79%)HP:0001250
Sensorineural deafness
Frequent (30-79%)HP:0000407
Short neck
Frequent (30-79%)HP:0000470
Neuropathy
Occasional (5-29%)HP:0009830
Optic atrophy
Occasional (5-29%)HP:0000648
Quick Facts
- SNOMED CT
- 41283003
- UMLS CUI
- C5399761
- Fully Specified Name
- Cerebro-oculo-facio-skeletal syndrome (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.