OMIM ID:
Fibrosis of Extraocular Muscles, CFEOM3C
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Bilateral ptosis is present at birth and the superior rectus muscle movements are limited. Two of the 4 affected members of the 3 generation family reported also had bilateral excyclotropia. The extraocular muscle movement restrictions were not progressive. On computed tomography the extraocular muscles appeared normal.
Systemic Features
One affected member of the pedigree had an unbalanced translocation with asymmetric facial dysmorphism with exophthalmia and ptosis. She also had physical and mental growth delay, kyphosis, pectus excavatum, limited speech, ophthalmoplegia, regression of motor skills and peripheral hypertonia with brisk reflexes. Other members with ophthalmoplegia had no systemic findings.
Genetics
Inheritance
In the reported family a balanced translocation, t(2;13)(q37.3;q12.11), was present in 3 affected. The 4th patient with syndromal ophthalmoplegia had an unbalanced translocation. The transmission pattern of t(2;13) is consistent with autosomal dominant inheritance.
Other nonsyndromal forms of congenital fibrosis of extraocular muscles include: CFEOM1 (135700), CFEOM2 (602078), CFEOM5 (616219), and CFEOM with synergistic divergence (609612). See also Tukel CFEOM syndrome (609428).
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission