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Genetic Disorder in Children
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ACHONDROPLASIA
IN CHILDREN
What are the complications of achondroplasia?
The most common complication occurs in adulthood is spinal cord compression leading to paralysis of legs requiring surgery to relieve the pressure.
Some children may die suddenly in infancy due to difficulty in breathing due to compression of the upper end of the spinal cord. Breathing problems may occur due to small chest size, large tonsils and small facial structure. In some children excess fluid may accumulate in the brain (hydrocephalus) for which surgery may be required.
How is achondroplasia diagnosed?
X-rays are used to confirm the diagnosis of achondroplasia. It will show large skull with a narrow foramen magnum and relatively small skull base, short, flattened vertabral bodies with relatively large intervertebral disk height and narrow spinal canal. The ribs are short with cupped anterior ends.
What is the treatment of hydrocephalus?
Currently, there is no cure for achondroplasia. However complications such as ear infections, spinal cord compression and hydrocephalus need to be treated as and when required.
Can achondroplasia be prevented?
The diagnosis of achondroplasia in the unborn child can be made with certainty if one or both parents have the condition. In most situations, in which parents have normal height, the diagnosis can only be suspected based on observation of disproportionately short limbs in the fetus by ultrasound. DNA testing for mutation can also be done.
Last updated on 16-04-2007
How is achondroplasia diagnosed?
X-rays are used to confirm the diagnosis of achondroplasia. It will show large skull with a narrow foramen magnum and relatively small skull base, short, flattened vertabral bodies with relatively large intervertebral disk height and narrow spinal canal. The ribs are short with cupped anterior ends.
What is the treatment of hydrocephalus?
Currently, there is no cure for achondroplasia. However complications such as ear infections, spinal cord compression and hydrocephalus need to be treated as and when required.
Can achondroplasia be prevented?
The diagnosis of achondroplasia in the unborn child can be made with certainty if one or both parents have the condition. In most situations, in which parents have normal height, the diagnosis can only be suspected based on observation of disproportionately short limbs in the fetus by ultrasound. DNA testing for mutation can also be done.
Last updated on 16-04-2007
Genetic Disorder Specialist
Answer
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