Features include always present findings: Overfolded helix, Increased incisura length, Microtia, and Mixed hearing impairment; and common findings: Cleft palate and Stenosis of the external auditory canal.

HOXA2 encodes homeobox A2 (376 aa). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis Highest expression in Fallopian Tube (10.3 TPM) and Artery Aorta (8.9 TPM).

Bilateral microtia-deafness-cleft palate syndrome is associated with mutations in the HOXA2 gene on chromosome 7.

The HOXA2 protein participates in HOXA2 gene is transcribed, HOXA2 chromatin is activated, and HOXB1 activates HOXA2 expression pathways.

HOXA2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for HOXA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for bilateral microtia-deafness-cleft palate syndrome has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 2 common features.

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

No clinical trials have been registered for bilateral microtia-deafness-cleft palate syndrome.

301 publications have been identified in PubMed for bilateral microtia-deafness-cleft palate syndrome. Kisho has analyzed 97 by research type. Research spans Case Report / Case Series (37%), Epidemiology / Natural History (16%), and Clinical Trial Publication (15%).