Craniofrontonasal syndrome (CFNS)

What is Craniofrontonasal syndrome (CFNS)?

Craniofrontonasal syndrome is a rare genetic condition with just 115 cases reported worldwide to date.

The main symptom of this rare disease is the premature fusing together of the bones of the skull. This cause the unique facial features associated with the syndrome.

What gene changes cause Craniofrontonasal syndrome (CFNS)?

The syndrome is an X-linked recessive genetic disorder. It affects females more frequently and more severely than males. Most males are not diagnosed with the condition. Due to the nature of the genetic inheritance of this X-linked disorder fathers can not pass it to their sons.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Craniofrontonasal syndrome (CFNS)?

Premature closure of the bones of the skull, as it is developing, causes most of the unique facial and head characteristics of the syndrome.

These include facial asymmetry, a slit in the top of the nose, a broad nose, widely spaced eyes, eyes that look in different directions, a webbed neck and sloping shoulders.

Sometimes there is an impact on brain development and mild intellectual disability may be a potential secondary symptom.

How does someone get tested for Craniofrontonasal syndrome (CFNS)?

The initial testing for Craniofrontonasal 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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