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Branchiooculofacial syndrome

disorder
SNOMED 449821007CUI C0376524

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Atypical scarring
Very frequent (80-99%)HP:0000987
Depressed philtrum
Very frequent (80-99%)HP:0002002
Dysplastic ears
Very frequent (80-99%)HP:0000377
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Hemangiomata
Very frequent (80-99%)HP:0001028
Hypoacusis
Very frequent (80-99%)HP:0000365
Notched pupil
Very frequent (80-99%)HP:0000589
Preauricular earpits
Very frequent (80-99%)HP:0004467
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 flat nasal bridge
Frequent (30-79%)HP:0000431
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
Hypernasal voice
Frequent (30-79%)HP:0001611
Indentation of chin
Frequent (30-79%)HP:0010751
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Iris coloboma
Frequent (30-79%)HP:0000612
Mongoloid slant
Frequent (30-79%)HP:0000582
Nanophthalmos
Frequent (30-79%)HP:0000568
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
Tooth hypotrophy
Frequent (30-79%)HP:0000691
Turridolichocephaly
Frequent (30-79%)HP:0000268

Related Conditions

Congenital abnormality of skull and face bones(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)

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.