Acrofacial Dysostosis 1, Nager Type (AFD1)

What is Acrofacial Dysostosis 1, Nager Type (AFD1)?

This rare disease is a genetic condition, with currently more than 75 cases reported to date.

Symptoms may vary but generally infants born with the condition require assistance with feeding and possible assistance with breathing, related to the specific unique physical features of the condition.

The majority of cases of the syndrome are not inherited, and are the first in a family.

What gene changes cause Acrofacial Dysostosis 1, Nager Type (AFD1)?

Mutations in the SF3B4 gene are responsible for the syndrome. The majority of cases are de novo mutations, meaning there is no known previous family history or inheritance pattern. But the syndrome has been noted to have been passed on in both an autosomal dominant or recessive way.

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.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

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.

What are the main symptoms of Acrofacial Dysostosis 1, Nager Type (AFD1)?

Symptoms are known to vary widely amongst individuals with the condition, and even amongst family members with the same diagnosis.

Unique facial characteristics of the syndrome include absent or small thumbs, underdeveloped cheekbones, a smaller lower jaw, an abnormally shaped nose, a wide mouth, absent eyebrows and an absent ear canal which can cause hearing loss. A cleft palate is also not uncommon.

The syndrome does not generally affect an individual’s intellectual ability but speech delay is a symptom of the condition and related to hearing loss.

Bone abnormalities are a common feature also. This tends to affect the forearms and elbows of an individual but can also affect the bones in the legs and feet.

How does someone get tested for Acrofacial Dysostosis 1, Nager Type (AFD1)?

The initial testing for Acrofacial Dysostosis 1, Nager Type (AFD1) 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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