Features include always present findings: Laryngeal hypoplasia, Pulmonary hypoplasia, Tracheomalacia, and Hypoplasia of the epiglottis and others; and very common findings: Situs inversus totalis, Mandibular aplasia, Narrow mouth, and Agenesis of corpus callosum and others. 31 total HPO annotations.

PRRX1 function has not been fully characterized.

Agnathia-otocephaly complex is associated with mutations in the PRRX1 gene on chromosome 1.

Genetic testing for PRRX1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 19 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for agnathia-otocephaly complex.

4 publications have been identified in PubMed for agnathia-otocephaly complex. Research spans Case Report / Case Series (75%) and Basic Science / Preclinical (25%).

Recent Publications

• Corona-Rivera JR (2025). [PMID: 40079387](https://pubmed.ncbi.nlm.nih.gov/40079387/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Velisavljev-Filipovic GM (2025). [PMID: 40709982](https://pubmed.ncbi.nlm.nih.gov/40709982/). *Diseases (Basel, Switzerland)*. [Case Report / Case Series]

• Konukcu B (2024). [PMID: 39697072](https://pubmed.ncbi.nlm.nih.gov/39697072/). *Birth defects research*. [Case Report / Case Series]

• Kock KH (2024). [PMID: 38600112](https://pubmed.ncbi.nlm.nih.gov/38600112/). *Nature communications*. [Basic Science / Preclinical]