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frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

MONDO:0013271

Also known as:ALX1-related frontonasal dysplasiafrontonasal dysplasia type 3FND3

Overview

GeneticsAutosomal recessive · ALX1 (chr 12)

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: Absent eyebrow, Prominent glabella, Upper eyelid coloboma, and Brachycephaly and others; and common findings: Cleft palate, Wide nasal bridge, Underdeveloped nasal alae, and Hypertelorism and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Tessier cleft, Hypoplasia of the maxilla

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.

ALX1 encodes ALX homeobox 1 (326 aa). Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes. Highest expression in Fallopian Tube (5.2 TPM) and Kidney Medulla (3.3 TPM).

Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome is caused by mutations in the ALX1 gene on chromosome 12.

ALX1 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for ALX1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 25 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 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome.

10 publications have been identified in PubMed for frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 7 of 12 sources · Last updated Sep 21, 2026, 2:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613456

Orphanet

European rare disease database

Orphanet:306542

GARD

Genetic and Rare Diseases Info Center

GARD:12640

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

frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

Overview

Clinical Presentation

Genetic Landscape

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

frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

Overview

Clinical Presentation

Genetic Landscape

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