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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!