Table 4.

Other Congenital Cranial Dysinnervation Disorders to Consider in the Differential Diagnosis of Duane Syndrome

DisorderGene(s)MOIClinical Features of the Disorder
Overlapping w/Duane syndromeDistinguishing from Duane syndrome
Congenital fibrosis of the extraocular muscles 1 KIF21A
PHOX2A
TUBB2B
TUBB3 		AD

AR

Often horizontal gaze restrictionsPtosis, restricted upgaze
Moebius syndrome
(OMIM 157900)		UnknownVariousHorizontal gaze palsyFacial weakness, no globe retraction
Horizontal gaze palsy with progressive scoliosis
(OMIM 607313)		 ROBO3 ARHorizontal gaze palsyNo globe retraction, severe, early onset scoliosis
1.

Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically defined syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, and Tukel syndrome.

From: Duane Syndrome

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