Acrodysostosis

What is Acrodysostosis?

It is a group of genetic conditions that affect bone growth. The main symptoms include very short fingers and toes, underdeveloped facial bones, as well as a small nose and short stature.

There are two types of the condition and they each have different gene change causes. The other difference is that Type 1 also presents with hormone resistance, which prevents the body from responding to certain hormones. Type 2 does not present with this same hormone resistance.

What gene changes cause Acrodysostosis?

Type 1 of the condition is caused by gene changes in the PRKAR1A gene.
Type 2 is caused by changes in the PDE4D gene.

What are the main symptoms of Acrodysostosis?

The main symptoms of the syndrome vary widely between individuals in terms of their presentation, and degree of severity.

Intellectual disability, ranging from mild to moderate, and developmental delays are main symptoms of the syndrome. Speech delay, and motor delay are also common.

Skeletal abnormalities are common with the syndrome. These can include short and malformed bones found in both the hands and feet. These short bones in turn case abnormally small hands and feet, as well as very short fingers and toes. They can also result in a short stature amongst affected individuals.

Scoliosis, an abnormal curving of the spine, is also common with the syndrome. Symptoms can also include stenosis, which is a narrowing of the spaces found in the spinal canal. This consequently causes numbness and or pain in their lower back and or legs, which worsens with time.
Unique facial features of the syndrome include an underdeveloped upper jaw, and a small nose caused by an underdeveloped nasal bone, as well as a depressed nasal bridge. A prominent lower jaw is also common, as are widely spaced eyes, and epicanthal folds (an extra fold of skin covering the inner corners of the eyes), low-set ears and abnormalities affecting the teeth.
Symptoms also include restricted growth before birth and growth delay often continues after birth too.

How does someone get tested for Acrodysostosis?

The initial testing for Acrodysostosis 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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