Preferred Label : Congenital fibrosis of extraocular muscles;
ICD-11 definition : Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically
defined strabismus syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C,
and Tukel syndrome, characterized by congenital non-progressive ophthalmoplegia with
or without ptosis (droopy eyelids). In general, affected individuals have severe limitation
of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals
with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head
positions at rest and by moving their heads rather than their eyes to track objects.
Individuals with CFEOM3A may also have intellectual disability, social disability,
facial weakness, and/or a progressive axonal peripheral neuropathy (a form of Charcot-Marie-Tooth
disease). Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly
of the hands.;
Origin ID : 887449084;
Automatic exact mappings (from CISMeF team)
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically
defined strabismus syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C,
and Tukel syndrome, characterized by congenital non-progressive ophthalmoplegia with
or without ptosis (droopy eyelids). In general, affected individuals have severe limitation
of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals
with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head
positions at rest and by moving their heads rather than their eyes to track objects.
Individuals with CFEOM3A may also have intellectual disability, social disability,
facial weakness, and/or a progressive axonal peripheral neuropathy (a form of Charcot-Marie-Tooth
disease). Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly
of the hands.
