Achondroplasia (ACH)

What is Achondroplasia (ACH)?

Achondroplasia is characterized by dwarfism. The syndrome makes it difficult for the body to convert cartilage into bone, which leads to restricted bone growth. It is the most common cause of dwarfism. Affected individuals usually have short limbs, including the arms and legs, but a normal sized torso.

It is a congenital syndrome that is usually identified at birth. The majority of cases of the syndrome are not inherited, but are the first case in a family.

What gene changes cause Achondroplasia (ACH)?

Mutations to the FGFR3 gene are responsible for the syndrome.

80% of cases are de novo, as in the first mutation in a family. The remaining cases are inherited.

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 Achondroplasia (ACH)?

Short-limbed dwarfism is the most common symptom with adults rarely growing taller than 4-4.5 feet tall. A large head and forehead are also common.

Other physical characteristics of the syndrome include underdeveloped parts of the face, inward facing and bow legged knees, short fingers and toes, a curve of the lower back and overcrowding of the teeth.

Individuals may also experience weight control issues as well as health conditions related to issues with their respiratory and nervous systems.

How does someone get tested for Achondroplasia (ACH)?

The initial testing for Achondroplasia 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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