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hemifacial hypertrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemifacial hypertrophy

MONDO:0007590

Also known as:facial asymmetryfacial hemihypertrophyhemifacial hyperplasia

Find Clinical TrialsTrials

Overview

Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.

GeneticsAutosomal dominant

Clinical Trials4 registered · 1 recruiting

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: Hemifacial hypertrophy; and very common findings: Facial asymmetry. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Hypoplasia of the maxilla, Facial asymmetry

Diagnosis

Biomarker and diagnostic research for hemifacial hypertrophy has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.

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.

4 clinical trials registered, 1 recruiting. Interventions under study include other interventions and procedural interventions. Pipeline includes 2 NA. Research is primarily sponsored by academic and government institutions.

156 publications have been identified in PubMed for hemifacial hypertrophy. Research spans Basic Science / Preclinical (33%), Clinical Trial Publication (22%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	51

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:133900

Orphanet

European rare disease database

Orphanet:141145

GARD

Genetic and Rare Diseases Info Center

GARD:16971

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→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

hemifacial hypertrophy

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

hemifacial hypertrophy

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

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