Mutations in the FGFR3 gene cause the protein to be overactive. Prevention Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. This is caused by mutations in the FGFR3 gene. Diagnosis during pregnancy Some characteristics of achondroplasia are detectable during an ultrasound. Possible Complications Health problems that may develop include: If you have achondroplasia, you may need to make some physical adaptations, such as avoiding impact sports that could damage the spine.
These include hydrocephalus, or an abnormally large head. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia. Their symptoms are physical, not mental. If any complications arise, then your doctor will address those issues. Fetal Diagnosis and Care. Outlook Prognosis People with achondroplasia seldom reach 5 feet 1. Disorders involving transmembrane receptors. At birth, a child with this condition will likely have: How is achondroplasia treated? However, because achondroplasia most often develops spontaneously, prevention is not always possible. Prominent forehead frontal bossing Shortened arms and legs especially the upper arm and thigh Short stature significantly below the average height for a person of the same age and sex Narrowing of the spinal column spinal stenosis Spine curvatures called kyphosis and lordosis Exams and Tests During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant. Mutations in the FGFR3 gene cause the protein to be overactive. Callen's Ultrasonography in Obstetrics and Gynecology. If you have achondroplasia, you may need to make some physical adaptations, such as avoiding impact sports that could damage the spine. Prevention Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. Nelson Textbook of Pediatrics. However, you can still live a full life. Diagnosis during pregnancy Some characteristics of achondroplasia are detectable during an ultrasound. People with achondroplasia generally have normal intelligence levels. This is caused by mutations in the FGFR3 gene. Blood tests may also be ordered to look for the defective FGFR3 gene. About 20 percent of cases are inherited. Treatment There is no specific treatment for achondroplasia. Intelligence is in the normal range. People with achondroplasia are short in stature with a normal sized torso and short limbs. For instance, antibiotics are given for ear infections and surgery may be performed in severe cases of spinal stenosis. These cases are caused by spontaneous mutations in the FGFR3 gene.
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