EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS

General Information (adopted from Orphanet):

Synonyms, Signs: RASMUSSEN SYNDROME
Number of Symptoms 10
OrphanetNr:
OMIM Id: 133705
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:0008033) Congenital exotropia 1 / 7739
2
(HPO:0000413) Atresia of the external auditory canal 32 / 7739
3
(HPO:0007598) Bilateral single transverse palmar creases 13 / 7739
4
(HPO:0009237) Short 5th finger 16 / 7739
5
(HPO:0001838) Rocker bottom foot 85 / 7739
6
(HPO:0002021) Pyloric stenosis 51 / 7739
7
(OMIM) Congenital bilateral symmetric subtotal external auditory canal atresia 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Bilateral foot anomalies 1 / 7739
10
(OMIM) Increased interocular distance (not ocular hypertelorism) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the descendants of a reportedly affected grandfather, Rasmussen et al. (1979) observed congenital bilateral symmetric subtotal atresia of the external auditory canal. Four of the 6 affected descendants had bilateral foot anomalies; 2 affected cousins had congenital ...