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frontorhiny - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

frontorhiny

MONDO:0007636

Also known as:ALX3-related frontonasal dysplasiafrontonasal dysplasia type 1isolated median cleft face syndrome

Overview

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

GeneticsSporadic (not inherited), Autosomal recessive · ALX3 (chr 1)

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: Wide nasal bridge. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Median cleft upper lip, Widely-spaced maxillary central incisors, Median cleft palate
Arms and legs

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.

ALX3 encodes ALX homeobox 3 (343 aa). Transcriptional regulator with a possible role in patterning of mesoderm during development Highest expression in Pituitary (1.3 TPM) and Uterus (0.9 TPM).

Frontorhiny is caused by mutations in the ALX3 gene on chromosome 1.

ALX3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ALX3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: Unknown (Unknown prevalence).

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 frontorhiny.

17 publications have been identified in PubMed for frontorhiny. Research spans Basic Science / Preclinical (41%), Case Report / Case Series (35%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Laboratory research	7	41%

Data assembled from 7 of 12 sources · Last updated Sep 17, 2026, 11:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:136760

Orphanet

European rare disease database

Orphanet:391474

GARD

Genetic and Rare Diseases Info Center

GARD:12642

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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frontorhiny

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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frontorhiny

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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