Pierre Robin Sequence with Cleft Mandible and Limb Anomalies

What is Pierre Robin Sequence with Cleft Mandible and Limb Anomalies?

It is a rare genetic syndrome that is characterized by a number of unique symptoms. These symptoms include distinct facial features and intellectual disability.

It is also referred to as Richieri Costa Pereira syndrome. It has been reported mainly in families of Brazilian descent.

What gene changes cause Pierre Robin Sequence with Cleft Mandible and Limb Anomalies?

Changes in the EIF4A3 gene are responsible for causing the syndrome.

It is inherited in an autosomal recessive pattern.

What are the main symptoms of Pierre Robin Sequence with Cleft Mandible and Limb Anomalies?

The main symptoms of the syndrome include those associated with the Pierre Robin sequence- a small jaw, a displaced or retracted tongue and airway obstruction causing breathing issues and a cleft palate.

Clubfoot is also a main symptom of the syndrome and numerous skeletal abnormalities of the limbs have also been reported.

Developmental delay has also been associated with the syndrome as has sleep apnea.

How does someone get tested for Pierre Robin Sequence with Cleft Mandible and Limb Anomalies?

The initial testing for Pierre Robin Sequence with Cleft Mandible and 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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