Acrofacial Dysostosis, Catania Type

What is Acrofacial Dysostosis, Catania Type?

This rare disease is a genetic syndrome which was first identified in 1993, as a new form of acrofacial dysostosis.

A short stature and unique facial features are characteristic of the syndrome.

Research is still ongoing into the exact causes of this orphan syndrome.

What gene changes cause Acrofacial Dysostosis, Catania Type?

As yet the exact gene and mutation responsible for the syndrome is unknown.

Research is still ongoing.

The exact mode of inheritance was unknown at the time this entry was recorded.

What are the main symptoms of Acrofacial Dysostosis, Catania Type?

Symptoms include mild growth delay intrauterine, with a short stature post birth.

Facial features of the syndrome include a short stature, a very small head, widow’s peak and a high, prominent forehead. A simian hand crease is also a common feature, as are short and webbed fingers and toes.

Other health conditions related to the syndrome include hernias, genital abnormalities in males and tooth decay.

How does someone get tested for Acrofacial Dysostosis, Catania Type?

The initial testing for Acrofacial Dysostosis, Catania Type syndrome 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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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

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