Microphthalmia with Limb Anomalies

What is Microphthalmia with Limb Anomalies?

A rare genetic syndrome and development disorder also known as Anophthalmia Waardenburg syndrome. The syndrome affects the development of the hands, feet and eyes.

What gene changes cause Microphthalmia with Limb Anomalies?

Changes in the SMOC1 gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Microphthalmia with Limb Anomalies?

The main symptoms of the syndrome affect the eyes, hands and feet of affected individuals. As a congenital disorder, the symptoms are present from birth.

Symptoms associated with abnormalities of the eyes include absent or underdeveloped eyes, or eyes that are very small. These symptoms usually affect both eyes.

Other main symptoms affect the hands and feet. This includes missing fingers and toes, digits that are fused together or in some cases extra fingers and toes.

The syndrome also presents with unique facial features and a cleft lip. Sometimes this also includes a cleft palate too.

Intellectual disability is also common with the syndrome.

How does someone get tested for Microphthalmia with Limb Anomalies?

The initial testing for Microphthalmia with Limb Anomalies can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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