Congenital Horner syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Congenital Claude-Bernard-Horner syndrome
Number of Symptoms 8
OrphanetNr: 91413
OMIM Id: 143000
ICD-10: G90.2
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: Ptosis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000490) Deeply set eye 131 / 7739
2
(HPO:0006837) Congenital Horner syndrome 1 / 7739
3
(HPO:0001100) Heterochromia iridis 31 / 7739
4
(HPO:0007451) Ipsilateral lack of facial sweating 1 / 7739
5
(OMIM) Upper lid ptosis 1 / 7739
6
(OMIM) Small pupil 4 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Unilateral cervical sympathetic paralysis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Horner syndrome, resulting from unilateral paralysis of the cervical sympathetics, comprises the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis. Iris heterochromia may also be present (Takanashi et al., 2003).
Clinical Description OMIM Durham (1958) described congenital Horner syndrome in a boy and his father, paternal aunt and uncle and a first cousin. The boy showed ptosis and pupillary changes on the left. The right iris was brown, the left blue. ...