craniofacial microsomia
MONDO:0015397Mondo
Findings
No curated finding names craniofacial microsomia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hemifacial hypoplasiaHPOHP:0011332
- Very frequent (80% to 99% of cases)
- Limbal dermoidHPOHP:0001140
- Very frequent (80% to 99% of cases)
- Preauricular skin tagHPOHP:0000384
- Very frequent (80% to 99% of cases)
- Abnormal renal morphologyHPOHP:0012210
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the mandibleHPOHP:0009118
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the maxillaHPOHP:0009117
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- HemivertebraeHPOHP:0002937
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- MicrotiaHPOHP:0008551
- Frequent (30% to 79% of cases)
Show the remaining 17
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Spina bifidaHPOHP:0002414
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- AnotiaHPOHP:0009892
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (2)
Other names
18 names
Resolves to: craniofacial microsomia
- Also called
- Expanded spectrum hemifacial microsomiaExpanded spectrum of hemifacial microsomiafacioauriculovertebral dysplasiafirst branchial arch syndromeGoldenhar diseaseGoldenhar syndromehemifacial microsomiaHFMLaterofacial microsomiaOAV dysplasiaOAV spectrumOAVSoculo-auriculo-vertebral spectrumoculoauriculovertebral dysplasiaoculoauriculovertebral spectrumoculoauriculovertebral syndrome