Your new post is loading...
Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This occurs during early development as a new mutation. It is also inherited from the parents in an autosomal dominant way. Those with two affected genes do not survive. Testing if uncertain of diagnosis based on symptoms is often strongly encouraged.
Achondroplasia can be detected before birth through the use of prenatal ultrasound. Moreover, a DNA test can also be performed to identify homozygosity, where two copies of the gene are inherited causing the deadly condition resulting in stillbirths. Clinical features include megalocephaly, short limbs, prominent forehead, thoracolumbar kyphosis, and mid-face hypoplasia. Complications such as dental malocclusion, hydrocephalus and replicated otitis media may also develop. The risk of death in infancy may be increased as a result of compression of the spinal cord with or without upper airway obstruction.
Achondroplasia is a genetic disorder that leads to dwarfism. In those with the condition, the legs and arms are short, while the chest is generally of regular length. Those affected have an average adult height of 131 centimeters for males and 123 centimeters for females. Other features include a prominent forehead and an enlarged head. For more information, please feel free to ask Dr. Jimenez or contact us at (915) 850-0900.