OSSIFIED EAR CARTILAGES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 165670
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) Ossified ear cartilage 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kirsch (1953) described ossification of the external ears in grandfather, father and son. Ossification occurs with calcification of the ear cartilages in hereditary conditions such as diastrophic dysplasia (222600), cold sensitivity (120100), alkaptonuria (203500), and Keutel syndrome (245150). ...