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Absent extraocular muscles

MedGen UID:: 892825
•Concept ID:: C4024777
•: Congenital Abnormality

Synonyms:	Absent ocular muscles; Missing eye muscles

HPO:	HP:0007886

Definition

Congenital absence of the extraocular muscles. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent extraocular muscles

Abnormality of the head
- Abnormality of the face
  - Abnormality of the orbital region
    - Abnormality of the ocular adnexa
      - Abnormal ocular adnexa morphology
        Abnormality of the extraocular muscles
        Absent extraocular muscles

Conditions with this feature

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

MedGen UID:: 349489
•Concept ID:: C1862373
•: Disease or Syndrome

See: Condition Record

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Professional guidelines

PubMed

Ocular myasthenia gravis: response to long-term immunosuppressive treatment.

Sommer N, Sigg B, Melms A, Weller M, Schepelmann K, Herzau V, Dichgans J
J Neurol Neurosurg Psychiatry 1997 Feb;62(2):156-62. doi: 10.1136/jnnp.62.2.156. PMID: 9048716 Free PMC Article

Recent clinical studies

Diagnosis

Absent and anomalous superior oblique and superior rectus muscles.

Drummond GT, Keech RV
Can J Ophthalmol 1989 Oct;24(6):275-9. PMID: 2611712

Prognosis

Absence of multiple extraocular muscles in craniosynostosis.

Greenberg MF, Pollard ZF
J AAPOS 1998 Oct;2(5):307-9. doi: 10.1016/s1091-8531(98)90090-8. PMID: 10646755

Supplemental Content

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Clinical resources

ClinicalTrials.gov

Practice guidelines

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Consumer resources

MedlinePlus

Reviews

Related information

PMC Articles
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PubMed
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