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Congenital Horner syndrome

MedGen UID:
327111
Concept ID:
C1840475
Disease or Syndrome
Synonym: Congenital Horner syndrome (disease)
SNOMED CT: Congenital Horner syndrome (770626007); Congenital Claude Bernard Horner syndrome (770626007)
 
HPO: HP:0006837
Monarch Initiative: MONDO:0007735
OMIM®: 143000
Orphanet: ORPHA91413

Definition

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). [from OMIM]

Clinical features

From HPO
Paralysis
MedGen UID:
105510
Concept ID:
C0522224
Finding
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
Congenital Horner syndrome
MedGen UID:
327111
Concept ID:
C1840475
Disease or Syndrome
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).
Ipsilateral lack of facial sweating
MedGen UID:
870428
Concept ID:
C4024874
Finding
Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Heterochromia iridis
MedGen UID:
98395
Concept ID:
C0423318
Finding
Heterochromia iridis is a difference in the color of the iris in the two eyes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Horner syndrome
Follow this link to review classifications for Congenital Horner syndrome in Orphanet.

Conditions with this feature

Congenital Horner syndrome
MedGen UID:
327111
Concept ID:
C1840475
Disease or Syndrome
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).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).

Professional guidelines

PubMed

Entezami P, Entezami P, Field NC, Nourollah-Zadeh E, Pinheiro-Neto CD, Dalfino JC
Br J Neurosurg 2024 Apr;38(2):523-526. Epub 2021 Aug 19 doi: 10.1080/02688697.2021.1921108. PMID: 35583046
Liu JK, Gottfried ON, Amini A, Couldwell WT
Neurosurg Focus 2004 Nov 15;17(5):E13. doi: 10.3171/foc.2004.17.5.13. PMID: 15633978

Recent clinical studies

Etiology

Ur Rehman H
CMAJ 2008 Aug 26;179(5):447-8. doi: 10.1503/cmaj.070497. PMID: 18725617Free PMC Article
Jeffery AR, Ellis FJ, Repka MX, Buncic JR
J AAPOS 1998 Jun;2(3):159-67. doi: 10.1016/s1091-8531(98)90008-8. PMID: 10532753

Diagnosis

Carvalho J, Maia M, Mota Á, Martins T
BMJ Case Rep 2020 Nov 30;13(11) doi: 10.1136/bcr-2020-238018. PMID: 33257383Free PMC Article
Wang FM, Wertenbaker C, Cho H, Marmor MA, Ahn-Lee SS, Bernard BA
J Neuroophthalmol 2012 Jun;32(2):132-4. doi: 10.1097/WNO.0b013e318240c678. PMID: 22622362
Ur Rehman H
CMAJ 2008 Aug 26;179(5):447-8. doi: 10.1503/cmaj.070497. PMID: 18725617Free PMC Article
Wallis DH, Granet DB, Levi L
J AAPOS 2003 Jun;7(3):215-6. doi: 10.1016/s1091-8531(02)42020-4. PMID: 12825064
Jeffery AR, Ellis FJ, Repka MX, Buncic JR
J AAPOS 1998 Jun;2(3):159-67. doi: 10.1016/s1091-8531(98)90008-8. PMID: 10532753

Therapy

Naimer SA, Weinstein O, Rosenthal G
J Thorac Cardiovasc Surg 2000 Aug;120(2):419-21. doi: 10.1067/mtc.2000.107340. PMID: 10917969
Diesenhouse MC, Palay DA, Newman NJ, To K, Albert DM
Ophthalmology 1992 Dec;99(12):1815-7. doi: 10.1016/s0161-6420(92)31720-8. PMID: 1480396

Prognosis

Ur Rehman H
CMAJ 2008 Aug 26;179(5):447-8. doi: 10.1503/cmaj.070497. PMID: 18725617Free PMC Article

Clinical prediction guides

Diesenhouse MC, Palay DA, Newman NJ, To K, Albert DM
Ophthalmology 1992 Dec;99(12):1815-7. doi: 10.1016/s0161-6420(92)31720-8. PMID: 1480396

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