Goldenhar syndrome

disorder

SNOMED 205418005CUI C0265240

Overview

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 maxilla

Frequent (30-79%)HP:0000327

Delayed language development

Frequent (30-79%)HP:0000750

Hearing impairment

Frequent (30-79%)HP:0000365

Hemivertebra

Frequent (30-79%)HP:0002937

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

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

Split spine

Frequent (30-79%)HP:0002414

Unbalanced face

Frequent (30-79%)HP:0000324

Abnormally small eyeball

Occasional (5-29%)HP:0000568

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

Eye drop

Occasional (5-29%)HP:0000508

Genu valga

Occasional (5-29%)HP:0002857

Hypoplastic or absent corpus callosum

Occasional (5-29%)HP:0007370

Related Conditions

Multiple system malformation syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Craniofacial microsomia(parent)

Congenital mandibular asymmetry(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 205418005
UMLS CUI: C0265240
Fully Specified Name: Goldenhar 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.