congenital fibrosis of the extraocular muscles 3C

info · Eye

A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11).

Signs and symptoms

Highly arched eyebrow
Congenital fibrosis of extraocular muscles
Kyphosis
Underdeveloped supraorbital ridges
Pectus excavatum
Thin upper lip vermilion
Intellectual disability
Restrictive partial external ophthalmoplegia
Congenital bilateral ptosis