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lacrimoauriculodentodigital syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lacrimoauriculodentodigital syndrome 3

MONDO:0859578

Overview

GeneticsAutosomal dominant · FGF10 (chr 5)

ResearchLimited published research (1 article)

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: Carious teeth, Absent lacrimal punctum, Partial duplication of thumb phalanx, and Alacrima; and very common findings: Lacrimal duct aplasia. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)

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.

FGF10 encodes fibroblast growth factor 10 (208 aa). Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing Highest expression in Cervix Ectocervix (19.0 TPM) and Cervix Endocervix (15.9 TPM).

Lacrimoauriculodentodigital syndrome 3 is associated with mutations in the FGF10 gene on chromosome 5.

The FGF10 protein participates in HNF6- and FGF10-dependent synthesis of PDX1 protein, HNF1B- and FGF10-dependent synthesis of PTF1A protein, and FGFR2c mutants bind an expanded range of ligands pathways.

FGF10 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, and Growth Factor categories) with score 0.0.

Diagnosis

Genetic testing for FGF10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 10 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.

No clinical trials have been registered for lacrimoauriculodentodigital syndrome 3.

1 publication has been identified in PubMed for lacrimoauriculodentodigital syndrome 3. Research spans Basic Science / Preclinical (100%).

Recent Publications

Reyna-Fabián ME (2024). [PMID: 38909058](https://pubmed.ncbi.nlm.nih.gov/38909058/). *Sci Rep*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620193

Questions for Your Care Team

→Should I pursue genetic testing for FGF10, 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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lacrimoauriculodentodigital syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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