Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)

What is Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)?

This rare disease is a genetic syndrome that may also be referred to as Mandibulofacial Dysostosis with microcephaly.

It primarily affects the head and face. Speech and language delays and intellectual disability are common features of the condition.

There are just 60 cases of the syndrome reported worldwide to date.

What gene changes cause Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)?

Mutations in the EFTUD2 gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern although most cases are the result of a new mutation and the first case in a family.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)?

One of the main features of this syndrome is a small head which appears to get smaller as the rest of the body grows normally.

Facial features or abnormalities characteristic of the syndrome include underdevelopment of the cheekbones and the middle of the face. A small jaw, small ears, and abnormal skin growths on the ears are also unique to the syndrome.

Hearing loss is common due to defects affecting the inner bones of the ears. A short stature and thumb abnormalities are other physical symptoms related to the syndrome.

Other consistent symptoms associated with the syndrome include growth and mental retardation

How does someone get tested for Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)?

The initial testing for Mandibulofacial Dysostosis, Guion-Almeida 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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