bilateral microtia-deafness-cleft palate syndrome
Findings
No curated finding names bilateral microtia-deafness-cleft palate syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
Definition from the Mondo Disease Ontology (MONDO:0012854), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased incisura lengthHPOHP:0031229
- 3 of 3 reported patients
- MicrotiaHPOHP:0008551
- 6 of 6 reported patients
- Mixed hearing impairmentHPOHP:0000410
- 3 of 3 reported patients
- Overfolded helixHPOHP:0000396
- 3 of 3 reported patients
- Cleft palateHPOHP:0000175
- 3 of 6 reported patients
- Stenosis of the external auditory canalHPOHP:0000402
- 3 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HOXA2HGNC:5103
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: bilateral microtia-deafness-cleft palate syndrome
- Also called
- microtia with or without hearing impairment (AD)microtia, hearing impairment, and cleft palate (AR)