Thickened earlobes - conductive deafness

General Information (adopted from Orphanet):

Synonyms, Signs: Escher-Hirt syndrome
Number of Symptoms 8
OrphanetNr: 2405
OMIM Id: 128980
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0009748) Large earlobe Very frequent [Orphanet] 27 / 7739
2
 (HPO:0004452) Abnormality of the middle ear ossicles Very frequent [Orphanet] 26 / 7739
3
 (HPO:0200111) Absent stapes head 1 / 7739
4
 (HPO:0008591) Congenital conductive hearing impairment 8 / 7739
5
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
6
 (OMIM) Curvature of long crus of incus 1 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Thickened earlobes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: