FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT

General Information (adopted from Orphanet):

Synonyms, Signs: CFEOM3A
FEOM3 LOCUS
Number of Symptoms 30
OrphanetNr:
OMIM Id: 600638
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:0010628) Facial palsy rare [HPO:skoehler] 146 / 7739
2
(HPO:0001491) Congenital fibrosis of extraocular muscles 9 / 7739
3
(HPO:0012242) Superior rectus atrophy 3 / 7739
4
(HPO:0001477) Compensatory chin elevation 5 / 7739
5
(HPO:0012241) Levator palpebrae superioris atrophy 3 / 7739
6
(HPO:0000577) Exotropia 43 / 7739
7
(HPO:0000646) Amblyopia 42 / 7739
8
(HPO:0007831) Nonprogressive restrictive external ophthalmoplegia 2 / 7739
9
(HPO:0000486) Strabismus 576 / 7739
10
(HPO:0000508) Ptosis 459 / 7739
11
(HPO:0001328) Specific learning disability rare [HPO:skoehler] 114 / 7739
12
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
13
(HPO:0003477) Peripheral axonal neuropathy rare [HPO:skoehler] 62 / 7739
14
(HPO:0001239) Wrist flexion contracture rare [HPO:skoehler] 13 / 7739
15
(HPO:0100490) Camptodactyly of finger rare [HPO:skoehler] 212 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Axonal peripheral sensorimotor neuropathy 3 / 7739
18
(OMIM) Ptosis, variable (bilateral, unilateral, or absent) 1 / 7739
19
(HPO:0003812) Phenotypic variability 129 / 7739
20
(OMIM) Eyes fixed in hypotrophic eye position (severe cases) 1 / 7739
21
(OMIM) Hypoplasia of the ocular nerve 1 / 7739
22
(OMIM) Rectus medial atrophy 1 / 7739
23
(OMIM) Ophthalmoplegia, nonprogressive restrictive, bilateral or unilateral 1 / 7739
24
(OMIM) Dysgenesis or agenesis of the corpus callosum (in some) 1 / 7739
25
(OMIM) Dysgenesis of the anterior commissure (in some) 1 / 7739
26
(OMIM) Inability to raise one or both eyes above midline 1 / 7739
27
(OMIM) Hypoplastic internal capsule (in some) 1 / 7739
28
(OMIM) Refractive error 4 / 7739
29
(OMIM) Dysmorphic basal ganglia 4 / 7739
30
(HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 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. If all affected members of a family have classic CFEOM ...
Clinical Description OMIM Khodadoust and von Noorden (1967) described a family in which a bilateral vertical retraction syndrome was present in 2 of 5 sibs. Although ocular motility was normal in the remainder of the family, 1 of the children with ...
Molecular genetics OMIM Tischfield et al. (2010) identified 8 different heterozygous mutations in the TUBB3 gene (see, e.g., 602661.0001-602661.0005) in affected individuals with autosomal dominant or sporadic congenital CFEOM3 (CFEOM3A). The most common mutation, R262C (602661.0001), was identified in the families ...