hypertelorism, microtia, facial clefting syndrome
MONDO:0009404Mondo
Findings
No curated finding names hypertelorism, microtia, facial clefting syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Definition from the Mondo Disease Ontology (MONDO:0009404), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Median cleft palateHPOHP:0009099
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Crossed fused renal ectopiaHPOHP:0004736
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Horseshoe kidneyHPOHP:0000085
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Severe short statureHPOHP:0003510
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
Show the remaining 3
- Thenar muscle atrophyHPOHP:0003393
- Frequent (30% to 79% of cases)
- Bifid nasal tipHPOHP:0000456
- Occasional (5% to 29% of cases)
- Bifid noseHPOHP:0011803
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: hypertelorism, microtia, facial clefting syndrome
- Also called
- Bixler-Christian-Gorlin syndromeHMC syndromehypertelorism-microtia-facial clefting syndrome