FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE

General Information (adopted from Orphanet):

Synonyms, Signs: EXTERNAL OPHTHALMOPLEGIA WITH SYNERGISTIC DIVERGENCE EXTERNAL OPHTHALMOPLEGIA, SYNERGISTIC DIVERGENCE, JAW WINKING, AND OCULOCUTANEOUS HYPOPIGMENTATION, INCLUDED
CONGENITAL FIBROSIS SYNDROME WITH SYNERGISTIC DIVERGENCE
Number of Symptoms 3
OrphanetNr:
OMIM Id: 609612
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000577) Exotropia 43 / 7739
2
(HPO:0000508) Ptosis 459 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital ocular fibrosis syndrome is a hereditary ocular motility disorder in which restrictive ophthalmoplegia and blepharoptosis are associated with replacement of orbital striated muscle by fibrous tissue (see CFEOM1; 135700). Brodsky et al. (1989) reported a child with ...