Acro-oto-radial syndrome

A rare genetic disorder affecting limbs and ears

Acro-oto-radial syndrome is a rare genetic disorder characterized by a combination of limb and ear abnormalities. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Presentation

Individuals with acro-oto-radial syndrome typically present with a range of physical anomalies. These may include:

• Limb abnormalities: Affected individuals often have radial ray anomalies, which can include radial aplasia or hypoplasia, leading to underdeveloped or absent thumbs and forearms. Other limb malformations may also be present.
• Ear abnormalities: The syndrome is associated with microtia, where the external ear is underdeveloped, and other auricular anomalies. Hearing loss may also occur due to structural abnormalities of the ear.

Genetics

Autosomal recessive inheritance pattern

Acro-oto-radial syndrome is caused by mutations in specific genes that are yet to be fully identified. The condition follows an autosomal recessive inheritance pattern, which requires both parents to be carriers of the mutated gene. Carriers typically do not show symptoms of the disorder.

Diagnosis

Diagnosis of acro-oto-radial syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. Prenatal diagnosis may be possible if the genetic mutation is known in the family.

Management

There is no cure for acro-oto-radial syndrome, and treatment is focused on managing symptoms and improving quality of life. This may involve:

• Surgical interventions: To correct limb deformities and improve function.
• Hearing aids: To address hearing loss associated with ear abnormalities.
• Rehabilitation therapies: Including physical and occupational therapy to enhance mobility and daily functioning.

Prognosis

The prognosis for individuals with acro-oto-radial syndrome varies depending on the severity of the symptoms and the success of interventions. With appropriate management, many individuals can lead relatively normal lives.

Related pages

• Radial dysplasia
• Microtia
• Genetic disorder