Achondroplasia (FGFR3) Gene Analysis Test Cost & Procedure

What is achondroplasia?

Hereditary short-limbed dwarfism is brought on by achondroplasia, a disorder that inhibits bone growth.

The most familiar kind of short-limb dwarfism, achondroplasia, is characterized by faulty bone construction, particularly in the long bones of the arms and legs.

affects roughly 1 in 25,000 people across all racial and ethnic groupings.

Genetics

More than 98% of cases of achondroplasia are caused by two distinct mutations in the FGFR3 gene.

Dominant, is it not? hereditary disorder, thus symptoms can arise from a mutation in just one copy of the FGFR3 gene.

Do some people inherit achondroplasia? inherited from a sick parent. Almost 80% of those who have achondroplasia have unaffected parents, however, the majority of cases are caused by a novel mutation in the FGFR3 gene.

Symptoms

Rhizomelia is a condition where the bones get shorter as a result of inadequate bone formation, especially in the upper arms and thighs.

The thighs and upper arms are additionally influenced by their longer bones and larger expansion plates (areas of the bones where growth happens).

Due to their smaller growth plates, the lower legs and forearms are more resistant to the condition.

With an uncommon gap between the third and fourth digits, the hands and feet are also small.

Those who are affected can only grow as tall as 120 cm (four feet).

Leg and back discomfort can affect adults. Infections and hearing loss can result from abnormal head growth.

Diagnosis

Often, achondroplasia is identified through bone measuring during a physical examination or following an X-ray.

If one or both parents already have the illness, it is recommended to undergo a prenatal diagnosis.

Achondroplasia typically develops spontaneously as a result of sperm or egg mutations.

Treatment

Achondroplasia has no known treatment.

Some children with achondroplasia may benefit from the use of growth hormones to attain modest growth.

In some circumstances, surgery may be the best course of action to lengthen the legs by up to 30 cm, prevent spinal compression, or straighten bowed legs

In some achondroplasia individuals, depleting fluid from the head may be essential to reduce tension on the brain, screen for hydrocephalus, a situation in which spinal fluid forms up inside the skull, or treatment of hydrocephalus.