Congenital Fibrosis of the Extraocular Muscles
A group of conditions, caused by changes in genes such as KIF21A, TUBB3 and PHOX2A, in which eye movements are restricted and the eyelids often droop from birth.
Mit változtat a diagnózis
A genetic diagnosis explains the condition, can guide planning for eye-muscle and eyelid surgery and informs recurrence risk.
Más néven
CFEOM1; FEOM; fibrosis of extraocular muscles, congenital; fibrosis of extraocular muscles, congenital, 1; fibrosis of extraocular muscles, congenital, type 1; Tukel syndrome
8 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- congenital fibrosis of extraocular muscles type 1
- fibrosis of extraocular muscles, congenital, 2
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- fibrosis of extraocular muscles, congenital, 3b
- fibrosis of extraocular muscles, congenital, 3c
- fibrosis of extraocular muscles, congenital, 5
- fibrosis of extraocular muscles, congenital, with synergistic divergence
- Tukel syndrome
