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auriculocondylar syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

auriculocondylar syndrome 2

MONDO:0013845

Also known as:Auriculocondylar syndrome type 2PLCB4 auriculocondylar syndromeauriculocondylar syndrome caused by mutation in PLCB4

Overview

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.

GeneticsAutosomal recessive, Autosomal dominant · PLCB4 (chr 20)

ResearchLimited published research (3 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 common findings: Narrow mouth, Glossoptosis, Respiratory distress, and Micrognathia and others; and sometimes findings: Hearing loss (hearing impairment), Low muscle tone (hypotonia), Mild global developmental delay, and Macrocephaly and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	7	Macrocephaly, Round face, Cleft at the superior portion of the pinna

Genetic Landscape

PLCB4 function has not been fully characterized.

Auriculocondylar syndrome 2 is caused by mutations in the PLCB4 gene on chromosome 20.

Diagnosis

Genetic testing for PLCB4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 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 auriculocondylar syndrome 2.

3 publications have been identified in PubMed for auriculocondylar syndrome 2. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Yadav M (2026). [PMID: 41124729](https://pubmed.ncbi.nlm.nih.gov/41124729/). *Eur J Radiol*. [Case Report / Case Series]
Repo PE (2025). [PMID: 39344744](https://pubmed.ncbi.nlm.nih.gov/39344744/). *Pigment Cell Melanoma Res*. [Basic Science / Preclinical]
Lin Y (2025). [PMID: 38414442](https://pubmed.ncbi.nlm.nih.gov/38414442/). *Cleft Palate Craniofac J*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614669

GARD

Genetic and Rare Diseases Info Center

GARD:15831

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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auriculocondylar syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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