Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Atypical scarring
Very frequent (80-99%)HP:0000987
Dysplastic ears
Very frequent (80-99%)HP:0000377
Hearing impairment
Very frequent (80-99%)HP:0000365
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Hemangiomata
Very frequent (80-99%)HP:0001028
Notched pupil
Very frequent (80-99%)HP:0000589
Preauricular earpits
Very frequent (80-99%)HP:0004467
Prominent philtrum
Very frequent (80-99%)HP:0002002
Protruding lower lip
Very frequent (80-99%)HP:0000232
Supraauricular sinus
Very frequent (80-99%)HP:0008606
Abnormal vocalization
Frequent (30-79%)HP:0002167
Broad, upturned nose
Frequent (30-79%)HP:0000455
Decreased body height
Frequent (30-79%)HP:0004322
Dental agenesis
Frequent (30-79%)HP:0009804
Dysplastic fingernails
Frequent (30-79%)HP:0100798
Growth delay as children
Frequent (30-79%)HP:0008897
High arched palate
Frequent (30-79%)HP:0000218
Hole in the back of the eye
Frequent (30-79%)HP:0000480
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Indentation of chin
Frequent (30-79%)HP:0010751
Iris coloboma
Frequent (30-79%)HP:0000612
Mongoloid slant
Frequent (30-79%)HP:0000582
Nanophthalmos
Frequent (30-79%)HP:0000568
Narrow head shape
Frequent (30-79%)HP:0000268
Nasal speech
Frequent (30-79%)HP:0001611
Nasolacrimal duct obstruction
Frequent (30-79%)HP:0000579
Non-midline cleft of the upper lip
Frequent (30-79%)HP:0100335
Premature graying of the hair
Frequent (30-79%)HP:0002216
Small for gestational age infant
Frequent (30-79%)HP:0001511
Tooth hypotrophy
Frequent (30-79%)HP:0000691
Quick Facts
- SNOMED CT
- 449821007
- UMLS CUI
- C0376524
- Fully Specified Name
- Branchiooculofacial 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.