Bor-Duane hydrocephalus contiguous gene syndrome
Overview
A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
Symptoms
* Hydrocephalus * Abnormal trapezius muscle * Narrowing of eye opening when looking towards the nose * Retraction of eyeball when looking towards the nose * Inability to move eyeballs inwards to nose * Inability to move eyeballs outwards to nose * Cross-eyed appearance * Hearing loss * Preauricular pits * Branchial cysts * Abnormal external ear * Inner ear malformation * Middle ear malformation * Narrowed tear duct * Undeveloped tear duct * Small ears * Kidney abnormalities * Narrow ear canal
Diagnosis
signs and symptoms of BOR-Duane hydrocephalus contiguous gene syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed BOR-Duane hydrocephalus contiguous gene syndrome symptoms.