EAR PITS, POSTERIOR HELICAL

General Information (adopted from Orphanet):

Synonyms, Signs: PHEP EARLOBE INDENTATIONS, POSTERIOR, INCLUDED
POSTERIOR HELICAL EAR PITS
Number of Symptoms 2
OrphanetNr:
OMIM Id: 128710
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:0008523) Posterior helix pit 2 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Best (1991) reported a large family with apparently autosomal dominant inheritance of pits in the posterior aspect of the helices of the ears. In addition, at least 2 cases of the Beckwith-Wiedemann syndrome (BWS; 130650) had occurred in ...
Molecular genetics OMIM Guala et al. (2007) reported a mother and son with isolated ear pits and no other signs of BWS. The Italian father had no PHEP and a negative family history; the mother was adopted from Ecuador, thus no ...