thickened earlobes-conductive deafness syndrome
Findings
No curated finding names thickened earlobes-conductive deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0007504), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Abnormal malleus morphologyHPOHP:0011454
- Abnormal pinna morphologyHPOHP:0000377
- Abnormality of the middle ear ossiclesHPOHP:0004452
- Bilateral conductive hearing impairmentHPOHP:0008513
- Congenital conductive hearing impairmentHPOHP:0008591
- MicrognathiaHPOHP:0000347
Where it sits
- A kind of
Other names
1 name
Resolves to: thickened earlobes-conductive deafness syndrome
- Also called
- Escher-Hirt syndrome