FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

General Information (adopted from Orphanet):

Synonyms, Signs: CFEOM3B, INCLUDED
BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS
CFEOM1
OPHTHALMOPLEGIA, CONGENITAL
FEOM1 LOCUS FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
Number of Symptoms 11
OrphanetNr:
OMIM Id: 135700
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:0012242) Superior rectus atrophy 3 / 7739
2
(HPO:0001488) Bilateral ptosis 42 / 7739
3
(HPO:0001477) Compensatory chin elevation 5 / 7739
4
(HPO:0001491) Congenital fibrosis of extraocular muscles 9 / 7739
5
(HPO:0012241) Levator palpebrae superioris atrophy 3 / 7739
6
(OMIM) Secondary exotropia 1 / 7739
7
(OMIM) Secondary esotropia 1 / 7739
8
(OMIM) Restrictive external ophthalmoplegia, bilateral 1 / 7739
9
(OMIM) Inability to raise eyes above midline 1 / 7739
10
(OMIM) Absent superior division of oculomotor nerve and corresponding alpha motor neurons 1 / 7739
11
(OMIM) Bilateral infraducted eye position (downward gaze) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with ...
Clinical Description OMIM Congenital fibrosis of extraocular muscles is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Although an earlier report of congenital blepharoptosis with markedly restricted eye movements can be identified, ...
Molecular genetics OMIM In 31 probands with CFEOM1 from unrelated families and in 13 sporadic cases, Yamada et al. (2003) identified 6 different heterozygous mutations in the KIF21A gene (see 608283.0001-608283.0006).

Tiab et al. (2004) identified the R954W mutation ...