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mandibulofacial dysostosis with alopecia (MFDA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mandibulofacial dysostosis with alopecia

MONDO:0014608

Also known as:MFDA

Overview

A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.

GeneticsAutosomal dominant · EDNRA (chr 4)

ResearchLimited published research (2 articles)

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: Alopecia, Mandibulofacial dysostosis, and Conductive hearing impairment; and common findings: Microtia, Cupped ear, Sparse eyelashes, and Cleft palate and others. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Cleft palate, Everted lower lip vermilion, Mandibulofacial dysostosis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EDNRA encodes endothelin receptor type A (427 aa). Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Highest expression in Cervix Ectocervix (89.7 TPM) and Cervix Endocervix (82.2 TPM).

Mandibulofacial dysostosis with alopecia is associated with mutations in the EDNRA gene on chromosome 4.

The EDNRA protein participates in EDNRA,EDNRB bind EDNs, EDNRA, EDNRB bind non-selective ERAs, and EDNRA,EDNRB:non-selective ERAs pathways.

EDNRA is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 6.8.

Diagnosis

Genetic testing for EDNRA is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 6 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 mandibulofacial dysostosis with alopecia.

2 publications have been identified in PubMed for mandibulofacial dysostosis with alopecia. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Kanai SM (2025). [PMID: 40171762](https://pubmed.ncbi.nlm.nih.gov/40171762/). *Development (Cambridge, England)*. [Basic Science / Preclinical]
Van Steensel MAM (2025). [PMID: 40689430](https://pubmed.ncbi.nlm.nih.gov/40689430/). *Annals of human genetics*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616367

Orphanet

European rare disease database

Orphanet:443995

GARD

Genetic and Rare Diseases Info Center

GARD:17758

Questions for Your Care Team

→Should I pursue genetic testing for EDNRA, and what would the results mean for my family?
→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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mandibulofacial dysostosis with alopecia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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