Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Benign eye tumour
Very frequent (80-99%)HP:0001140
Preauricular skin tags
Very frequent (80-99%)HP:0000384
Aplasia/Hypoplasia of the mandible
Frequent (30-79%)HP:0009118
Aplasia/Hypoplasia of the maxilla
Frequent (30-79%)HP:0009117
Cervical ribs
Frequent (30-79%)HP:0000891
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Deafness
Frequent (30-79%)HP:0000365
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Delayed language development
Frequent (30-79%)HP:0000750
External auditory meatal atresia
Frequent (30-79%)HP:0000413
Global developmental delay, mild
Frequent (30-79%)HP:0011342
Hemivertebra
Frequent (30-79%)HP:0002937
Kidney malformation
Frequent (30-79%)HP:0012210
Lateral facial cleft
Frequent (30-79%)HP:0100731
Microtia
Frequent (30-79%)HP:0008551
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Small upper jaw
Frequent (30-79%)HP:0000327
Split spine
Frequent (30-79%)HP:0002414
Unbalanced face
Frequent (30-79%)HP:0000324
Accessory tragus
Occasional (5-29%)HP:0011270
Anotia
Occasional (5-29%)HP:0009892
Bifid thumb
Occasional (5-29%)HP:0009944
Cardiac anomaly
Occasional (5-29%)HP:0001627
Chiari malformation
Occasional (5-29%)HP:0002308
Cross bite
Occasional (5-29%)HP:0033792
Decreased size of cranium
Occasional (5-29%)HP:0000252
Dental crowding
Occasional (5-29%)HP:0000678
Eyelid ptosis
Occasional (5-29%)HP:0000508
Genu valga
Occasional (5-29%)HP:0002857
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Related Conditions
Quick Facts
- SNOMED CT
- 367462009
- UMLS CUI
- C0265240
- Fully Specified Name
- Facio-auriculo-vertebral spectrum (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.