Paula and Bobby
Parents of Lillie
What is Laron syndrome?
This rare disease is a genetic syndrome that occurs when the body is incapable of utilizing growth hormones. As a result a short stature is one of its main symptoms.
The syndrome is not necessarily identified at birth, as affected infants are often born an average height. Height growth starts to slow usually in childhood and without treatment will continue into adulthood. Treatment for the limited height growth involves injections of a growth factor similar to insulin.
Those diagnosed with the syndrome may possibly have a reduced risk of developing cancer and diabetes type 2.
What gene changes cause Laron syndrome?
It is caused by changes to the GHR gene. It is inherited in an autosomal recessive pattern.
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.
What are the main symptoms of Laron syndrome?
The main symptom of the syndrome is a short stature with restricted height growth that is progressive, from childhood into adulthood. Short limbs, the arms and legs, are also a common feature.
Unique facial features associated with the syndrome include a protruding forehead, sunken bridge of the nose and a blue sclerae (bluish coloring of the whites of the eyes).
Reduced muscle strength and lower endurance are also symptoms. As are delayed puberty and obesity.
Hypoglycemia, low blood sugar and its related side effects, may be identified in infancy in affected individuals.
How does someone get tested for Laron syndrome?
The initial testing for Laron 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.
What is FDNA Telehealth?
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