Fibrosis Of Extraocular Muscles, Congenital, 3c

For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A (600638).

Cytogenetics

Aubourg et al. (2005) reported a 3-generation family with a phenotype consistent with autosomal dominant CFEOM3 cosegregating with a balanced/unbalanced reciprocal translocation t(2;13)(q37.3;q12.11). Affected individuals exhibited congenital bilateral ptosis and limitation of the superior rectus; 2 also had bilateral excyclotropia. The rearrangement was balanced in 3 affected individuals and unbalanced in 1 affected girl who presented with syndromic CFEOM with mental retardation and facial dysmorphism reminiscent of Albright hereditary osteodystrophy-like syndrome (600430), which has been associated with 2qter deletions but does not include ptosis. Aubourg et al. (2005) stated that the ptosis is presumably due to loss of heterozygosity at chromosome 13q.