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Achondroplasia - Treatment of Achondroplasia

What is Achondroplasia?

Achondroplasia is an autosomal dominant genetic disorder (beginning before birth) of bone or skeletal. This condition is common cause of congenital dwarfism, short limbs, short stature, large head, small face, premature ossification and lordosis. It is caused by an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FBFR3). It occurs at a frequency of about 1 in 20,000 to 1 in 40,000 births.

Causes of Achondroplasia

• this is caused by autosomal dominant genetic(it means if fathers have who is in 45 years old)
• it is affected by incomplite bone growth
• we can find most common cause of dwarfism
• the other one cause is known as fibroblast growth factor receptor (it means mutation in a genetic)
• these two causes are also the part of genetic( hypochondroplasia and thanatophoric dysplasia.)

Symptoms of Achondroplasia

The following are the symptoms of achondroplasia:

• waddling gait
• short limbs with short arms and legs
• lower bowed legs
• large head size as compare to the body
• spinal stenosis
• unproper alignment of teeth
• it takes time to developmental milestones for ex walking (the child will walk around one year of age but in this may occur between 18 to 24 months )
• ear infections which may affect hearing loss
• abnormal hand ( known as a trident hand.)
• incompleitly of bone development
• the short and broad flat feet
  

Treatment of Achondroplasia

in achondroplasia there is no perticuler treatment for Related causes including spinal stenosis and spinal cord compression, when they have problems then we treated.

• firsly we growth of hormone it is not fully affect on height
• it is necssary to control weight for obesity.
• handle with careful neurologic examinations such as CT scan, MR
• surgery may affected in some cases to increase leg length
• to secure from spinal compression and correct bowed legs we also used the surgery.
• MEDICINE: Nutropin, Genotropin, Humatrope this drug useful to growth the harmons.
• GH helpful to growth bone, skeletal muscle, and organs. increases RBC mass using erythropoietin.