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hypertelorism, microtia, facial clefting syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertelorism, microtia, facial clefting syndrome

MONDO:0009404

Also known as:Bixler Christian Gorlin syndromeBixler syndromeHMC syndrome

Overview

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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Global developmental delay. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Cleft palate, Microcephaly, Cleft upper lip
Arms and legs

Diagnosis

Biomarker and diagnostic research for hypertelorism, microtia, facial clefting syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypertelorism, microtia, facial clefting syndrome.

109 publications have been identified in PubMed for hypertelorism, microtia, facial clefting syndrome. Kisho has analyzed 85 by research type. Research spans Review / Meta-Analysis (73%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (4%).

Research Type	Count	% of Total
Research summaries	62	73%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:239800

Orphanet

European rare disease database

Orphanet:2213

GARD

Genetic and Rare Diseases Info Center

GARD:897

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hypertelorism, microtia, facial clefting syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypertelorism, microtia, facial clefting syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications