EXCHONDROSIS OF PINNA, POSTERIOR

General Information (adopted from Orphanet):

Synonyms, Signs: EAR BUMP
Number of Symptoms 3
OrphanetNr:
OMIM Id: 133500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000598) Abnormality of the ear 98 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
 (OMIM) Posterior pinnal exchondrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM A cartilaginous spur on the posterior aspect of the pinna rather close to its attachment to the side of the head is probably inherited as an irregular dominant (Quelprud, 1939).