MCID: HRN024
MIFTS: 22

Horner Syndrome, Congenital

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Horner Syndrome, Congenital

MalaCards integrated aliases for Horner Syndrome, Congenital:

Name: Horner Syndrome, Congenital 57 71
Congenital Claude-Bernard-Horner Syndrome 58
Congenital Horner Syndrome 58

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 143000
ICD10 via Orphanet 32 G90.2
UMLS via Orphanet 72 C1840475
Orphanet 58 ORPHA91413
MedGen 40 C1840475
UMLS 71 C1840475

Summaries for Horner Syndrome, Congenital

Orphanet: 58 Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.

MalaCards based summary: Horner Syndrome, Congenital, also known as congenital claude-bernard-horner syndrome, is related to horner's syndrome and ganglioneuroblastoma. Affiliated tissues include eye and hypothalamus, and related phenotypes are deeply set eye and heterochromia iridis

OMIM®: 57 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). (143000) (Updated 24-Oct-2022)

Related Diseases for Horner Syndrome, Congenital

Diseases in the Horner's Syndrome family:

Horner Syndrome, Congenital

Diseases related to Horner Syndrome, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 horner's syndrome 11.2
2 ganglioneuroblastoma 11.1
3 ptosis 10.2
4 anhidrosis 10.2
5 dilution, pigmentary 9.9
6 heterochromia iridis 9.9
7 ocular pigment dispersion with or without glaucoma 9.9
8 cervical neuroblastoma 9.9
9 spastic hemiplegia 9.9
10 hemiplegia 9.9
11 enophthalmos 9.9
12 neuroblastoma 9.9
13 orbital disease 9.9

Graphical network of the top 20 diseases related to Horner Syndrome, Congenital:



Diseases related to Horner Syndrome, Congenital

Symptoms & Phenotypes for Horner Syndrome, Congenital

Human phenotypes related to Horner Syndrome, Congenital:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 deeply set eye 30 HP:0000490
2 heterochromia iridis 30 HP:0001100
3 paralysis 30 HP:0003470
4 congenital horner syndrome 30 HP:0006837
5 ipsilateral lack of facial sweating 30 HP:0007451

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Eyes:
heterochromia iridis
enophthalmos
upper lid ptosis
small pupil

Skin:
ipsilateral lack of facial sweating

Neuro:
congenital horner syndrome
unilateral cervical sympathetic paralysis

Clinical features from OMIM®:

143000 (Updated 24-Oct-2022)

Drugs & Therapeutics for Horner Syndrome, Congenital

Search Clinical Trials, NIH Clinical Center for Horner Syndrome, Congenital

Genetic Tests for Horner Syndrome, Congenital

Anatomical Context for Horner Syndrome, Congenital

Organs/tissues related to Horner Syndrome, Congenital:

MalaCards : Eye, Hypothalamus

Publications for Horner Syndrome, Congenital

Articles related to Horner Syndrome, Congenital:

(show all 29)
# Title Authors PMID Year
1
Contralateral rhinorrhea as a feature of infantile Horner's syndrome. 57
14610154 2003
2
Nasal obstruction and Horner's syndrome. 57
7991269 1994
3
Autosomal dominant congenital Horner's syndrome in a Dutch family. 57
1548493 1992
4
Johann Friedrich Horner (1831-1886). 57
3538884 1986
5
Reversal of Iris Heterochromia in Adult-Onset Acquired Horner Syndrome. 62
32956222 2021
6
Congenital Horner and Scimitar syndrome in a newborn: a previously unreported combination. 62
33257383 2020
7
A case of congenital Horner syndrome from the 16th century. 62
32702330 2020
8
Pigment Dispersion Syndrome Mimicking Congenital Horner Syndrome. 62
29329469 2018
9
[Congenital Horner syndrome. Case report]. 62
29333828 2018
10
Anatomic variants in Dandy-Walker complex. 62
29250689 2017
11
Congenital horner syndrome with heterochromia iridis associated with ipsilateral internal carotid artery hypoplasia. 62
25749818 2015
12
Unilateral straight hair and congenital horner syndrome. 62
22622362 2012
13
Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia. 62
19765926 2010
14
[Congenital Horner syndrome]. 62
19246261 2009
15
[Congenital Horner syndrome associated with hypoplasia of the internal carotid artery]. 62
19515324 2009
16
Heterochromia. 62
18725617 2008
17
Unnoticed dysautonomic syndrome of the face: Harlequin syndrome. 62
17569597 2007
18
[Dysgenesis of the carotid artery associated with congenital ipsilateral Horner syndrome]. 62
17228822 2007
19
A case of Horner syndrome with intermittent mydriasis in a patient with hypoplasia of the internal carotid artery. 62
16775289 2006
20
Congenital horner syndrome and hemiplegia secondary to carotid dissection. 62
15825751 2005
21
When the darker eye has the smaller pupil. 62
12825064 2003
22
Congenital Horner syndrome. 62
11279431 2001
23
Congenital horner syndrome: a rare though significant complication of subclavian flap aortoplasty. 62
10917969 2000
24
Pediatric Horner syndrome. 62
10532753 1998
25
Acquired heterochromia with horner syndrome in two adults. 62
1480396 1992
26
Congenital Horner syndrome associated with non-cervical neuroblastoma. 62
1511796 1992
27
Unilateral straight hair in congenital Horner syndrome due to stellate ganglion tumor. 62
6847153 1983
28
[Congenital Horner syndrome]. 62
6350758 1983
29
[Congenital Claude Bernard-Horner syndrome and iris heterochromy]. 62
5070328 1972

Variations for Horner Syndrome, Congenital

Expression for Horner Syndrome, Congenital

Search GEO for disease gene expression data for Horner Syndrome, Congenital.

Pathways for Horner Syndrome, Congenital

GO Terms for Horner Syndrome, Congenital

Sources for Horner Syndrome, Congenital

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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