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Fibrosis of extraocular muscles, congenital, with synergistic divergence

MedGen UID:: 351285
•Concept ID:: C1865040
•: Disease or Syndrome

Synonyms:	CONGENITAL FIBROSIS SYNDROME WITH SYNERGISTIC DIVERGENCE; EXTERNAL OPHTHALMOPLEGIA WITH SYNERGISTIC DIVERGENCE

Monarch Initiative:	MONDO:0012310
OMIM®:	609612

Clinical features

From HPO

Ptosis

MedGen UID:: 2287
•Concept ID:: C0005745
•: Disease or Syndrome

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

See: Feature record | Search on this feature

Exotropia

MedGen UID:: 4613
•Concept ID:: C0015310
•: Disease or Syndrome

A form of strabismus with one or both eyes deviated outward.

See: Feature record | Search on this feature

Abnormality of the eye
- Exotropia
- Ptosis

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormality of the face
- Abnormality of the orbital region
  - Abnormality of the ocular adnexa
    - Abnormal ocular adnexa morphology
      - Abnormality of the extraocular muscles
        Congenital fibrosis of extraocular muscles
        Fibrosis of extraocular muscles, congenital, with synergistic divergence

Recent clinical studies

Etiology

Imaging findings in congenital cranial dysinnervation disorders.

Ferreira RM, Amaral LL, Gonçalves MV, Lin K
Top Magn Reson Imaging 2011 Dec;22(6):283-94. doi: 10.1097/RMR.0000000000000009. PMID: 24132067

Diagnosis

Congenital cranial dysinnervation disorders: a concept in evolution.

Bosley TM, Abu-Amero KK, Oystreck DT
Curr Opin Ophthalmol 2013 Sep;24(5):398-406. doi: 10.1097/ICU.0b013e3283645ad6. PMID: 23872818

Imaging findings in congenital cranial dysinnervation disorders.

Ferreira RM, Amaral LL, Gonçalves MV, Lin K
Top Magn Reson Imaging 2011 Dec;22(6):283-94. doi: 10.1097/RMR.0000000000000009. PMID: 24132067

Congenitally dysplastic inferior rectus muscle.

Kekunnaya R, Bansal R, Vemuganti GK
J Pediatr Ophthalmol Strabismus 2010 Jul 22;47 Online:e1-4. doi: 10.3928/01913913-20100719-10. PMID: 21158361

Prognosis

Congenital cranial dysinnervation disorders: a concept in evolution.

Bosley TM, Abu-Amero KK, Oystreck DT
Curr Opin Ophthalmol 2013 Sep;24(5):398-406. doi: 10.1097/ICU.0b013e3283645ad6. PMID: 23872818

Clinical prediction guides

Congenital cranial dysinnervation disorders: a concept in evolution.

Bosley TM, Abu-Amero KK, Oystreck DT
Curr Opin Ophthalmol 2013 Sep;24(5):398-406. doi: 10.1097/ICU.0b013e3283645ad6. PMID: 23872818

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Coriell Institute for Medical Research

Consumer resources

Reviews

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