PREAURICULAR FISTULAE, CONGENITAL

General Information (adopted from Orphanet):

Synonyms, Signs: EAR PITS
PAFC
Number of Symptoms 3
OrphanetNr:
OMIM Id: 128700
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:0004467) Preauricular pit 39 / 7739
2
(OMIM) Ear pits in upper anterior end of helix 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Although in at least 1 family (Muckle, 1961) both ear pits and lateral cervical sinuses opening at various levels on the anterior margin of the sternomastoid were present, sometimes in the same individual, most families have shown either ...
Population genetics OMIM Ewing (1946) found ear pits in 0.9% of 3,500 British service men. They occur more frequently in blacks (Simpkiss and Lowe, 1961). Gualandri (1969) found 321 cases among 29,309 Milan school children. Pedigrees were prepared in 93 cases ...