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deafness-craniofacial syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness-craniofacial syndrome

MONDO:0007428

Overview

Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.

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 very common findings: Abnormal palate morphology, Short lingual frenulum, Facial asymmetry, and Inner ear hearing loss (sensorineural hearing impairment) and others; and common findings: Abnormality of the dentition, Short philtrum, Deeply set eye, and Upslanted palpebral fissure and others.

Organ System	Phenotype Count	Example Features
Head and neck	2	Abnormal palate morphology, Facial asymmetry

Diagnosis

Biomarker and diagnostic research for deafness-craniofacial syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 5 common features.

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 deafness-craniofacial syndrome.

215 publications have been identified in PubMed for deafness-craniofacial syndrome. Kisho has analyzed 142 by research type. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (13%), and Case Report / Case Series (7%).

Research Type	Count	% of Total
Research summaries	96	68%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125230

Orphanet

European rare disease database

Orphanet:3241

GARD

Genetic and Rare Diseases Info Center

GARD:1686

Questions for Your Care Team

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Kisho

deafness-craniofacial 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

deafness-craniofacial 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