ANORECTAL ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 107100
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:0000143) Rectovaginal fistula 18 / 7739
2
(HPO:0002023) Anal atresia 135 / 7739
3
(MedDRA:10002581) Anorectal stenosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kaijser and Malmstrom-Groth (1957) described imperforate anus with rectovaginal fistula in a mother and her 2 daughters.

Van Gelder and Kloepfer (1961) observed 4 sibs with anorectal stenosis or imperforate anus. Although the parents were unaffected, ...