Acro-oto-radial syndrome

Acro-oto-radial syndrome is a rare genetic disorder characterized by anomalies in the development of the ear, hand, and forearm. The syndrome is also known as Schinzel syndrome and is named after the Swiss geneticist Albert Schinzel, who first described the condition in 1979.

Symptoms and Signs

The primary symptoms of Acro-oto-radial syndrome include microtia (underdevelopment of the external ear), preauricular pits (small depressions in the skin in front of the ear), radial dysplasia (abnormal development of the radius bone in the forearm), and thumb abnormalities. Other symptoms may include hearing loss due to the ear anomalies, and limited range of motion in the hand and forearm due to the radial dysplasia.

Causes

Acro-oto-radial syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. The specific gene or genes responsible for the syndrome have not yet been identified. The syndrome is believed to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene in order for a child to be affected.

Diagnosis

Diagnosis of Acro-oto-radial syndrome is based on the presence of the characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for Acro-oto-radial syndrome is symptomatic and supportive. This may include surgery to correct the ear and hand anomalies, and hearing aids to manage hearing loss. Physical therapy may also be beneficial for improving range of motion in the hand and forearm.

Prognosis

The prognosis for individuals with Acro-oto-radial syndrome varies depending on the severity of the symptoms. With appropriate treatment and support, many individuals with the syndrome can lead normal lives.

See Also

• Genetic disorders
• Microtia
• Radial dysplasia
• Autosomal recessive inheritance

NIH genetic and rare disease info

• NIH info on Acro-oto-radial syndrome

Acro-oto-radial syndrome is a rare disease.

Acro-oto-radial syndrome Resources
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