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.
Epibulbar dermoid
Very frequent (80-99%)HP:0001140
Preauricular skin tags
Very frequent (80-99%)HP:0000384
Absent auditory canals
Frequent (30-79%)HP:0000413
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
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Deficiency of upper jaw bones
Frequent (30-79%)HP:0000327
Hearing impairment
Frequent (30-79%)HP:0000365
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
Psychomotor retardation, mild
Frequent (30-79%)HP:0011342
Scoliosis
Frequent (30-79%)HP:0002650
Speech delay
Frequent (30-79%)HP:0000750
Split spine
Frequent (30-79%)HP:0002414
Unbalanced face
Frequent (30-79%)HP:0000324
Absent ears
Occasional (5-29%)HP:0009892
Accessory tragus
Occasional (5-29%)HP:0011270
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
Eyelid ptosis
Occasional (5-29%)HP:0000508
Genu valga
Occasional (5-29%)HP:0002857
Hydramnios
Occasional (5-29%)HP:0001561
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Related Conditions
Bilateral craniofacial microsomia(child)
Hemifacial microsomia(child)
Goldenhar syndrome(child)
Facio-auriculo-vertebral spectrum(child)
First and second branchial arch syndrome(child)
Oculo-auriculo-vertebral spectrum(child)
Otomandibular dysostosis(child)
Congenital abnormality of skull and face bones(parent)
Congenital facial asymmetry(parent)
Quick Facts
- SNOMED CT
- 254026007
- UMLS CUI
- C0265240
- Fully Specified Name
- Craniofacial microsomia (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.