Postaxial Acrofacial Dysostosis

What is Postaxial Acrofacial Dysostosis?

It is a rare genetic syndrome also often referred to as Miller syndrome. It’s defining features include craniofacial abnormalities affecting the face and skull, as well as limb abnormalities too. The syndrome is usually identified at birth. There are less than 75 cases currently reported worldwide although it is believed there are a number of undiagnosed cases which would make the prevalence rate higher.

What gene changes cause Postaxial Acrofacial Dysostosis?

Mutations in the DHODH gene are responsible for causing the syndrome.

It is inherited in an autosomal recessive pattern.

What are the main symptoms of Postaxial Acrofacial Dysostosis?

Unique facial features are a main symptom of the syndrome. They include underdeveloped cheekbones, a small jaw, cleft palate, cup shaped ears, a cleft lip, broad nasal bridge and the absence of tissue from the lower eyelids.

Breathing and feeding difficulties are often a consequence of a small jaw.

Some individuals also experience hearing loss, related to problems with the development of the inner ear related to the syndrome.

Missing digits, both fingers and toes, are also associated with the syndrome. As are undeveloped bones in the digits. Finger webbing is also often present.

Some affected individuals also have kidney, gastrointestinal and heart problems.

How does someone get tested for Postaxial Acrofacial Dysostosis?

The initial testing for Postaxial Acrofacial Dysostosis 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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