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Genetic disorder with congenital deafness and progressive visual loss.

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Autosomal dominant.

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Hearing loss is sensorineural and severe at birth. Although many patients do not develop any speech, some still have residual hearing in the lower frequencies, allowing amplification and development of speech if treated in early childhood. Bilateral optic nerve atrophy begins at an early age but is very slowly progressive, with visual loss noticeable by the patient by age 24 to 30 years. This syndrome has no other associated findings.

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In the presence of hearing loss without significant visual loss, optimize communication by remaining in the visual field of the patient. Writing and drawing, when appropriate, are useful tools. When sign language is used, a qualified translator available preoperatively and postoperatively is an ideal helper. If the patient uses an amplifying hearing device, keeping it available during induction and emergence of anesthesia helps to reduce anxiety.

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Sylvester Syndrome: Autosomal dominant inherited form of Friedreich ataxia described in 6 of 9 children of one family. Combined findings of Friedreich ataxia with optic atrophy and progressive sensorineural hearing loss.

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Nyssen-van Bogaert Syndrome: Rare genetic disorder with blindness, deafness, developmental delay, and spasticity.

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Alström Syndrome: Inherited syndrome with progressive visual and hearing loss, diabetes mellitus, and cardiac, hepatic, and renal involvement.

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Cockayne Syndrome: Characteristics of this autosomal-recessive inherited disease are dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy, progressive sensorineural deafness, sensitivity to sunlight, and mental retardation. Disproportionately long limbs with large hands and feet and flexion contractures of joints are usual skeletal features.

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Ballinger-Wallace Syndrome: Maternally transmitted diabetes mellitus, neurosensory deafness, and ophthalmic abnormalities.

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Wolfram Syndrome: Genetic syndrome sometimes referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).

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Rogers Syndrome: Rare syndrome caused by a defect in a transporter of thiamine, which results in anemia, diabetes, puffiness, and deafness. Situs inversus viscerum totalis is characteristic.

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CAPOS Syndrome: Congenital neurologic syndrome with presentation in infancy.

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Rosenberg-Chutorian Syndrome: Inherited neurodegenerative disorder with polyneuropathy, optic atrophy, and deafness. Features resemble those of Charcot-Marie-Tooth disease combined with deafness.

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Usher Syndrome: Autosomal recessive disease associated with retinitis pigmentosa and sensorineural deafness.

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Refsum Syndrome: Syndrome caused by accumulation of nicotinic acid that leads to polyneuropathy, cutaneous ichthyosis, cardiac failure, deafness, and visual anomalies.

Konigsmark BW, Knox DL, Hussels IE, et al: Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family. Arch Ophthalmol 91:99, 1974.  [PubMed: 4544000]
Kollarits CR, Pinheiro ML, Swann ER, et al: The autosomal dominant syndrome of progressive optic atrophy and congenital deafness. Am J Ophthalmol 87:789, 1979.  [PubMed: 453309]
Sylvester PE: Some unusual findings in a family with ...

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