Achondroplasia

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Achondroplasia
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Achondroplasia

• Achondroplasia is a bone disorder that affects
  about 1 in every 10,000 infants. This disease is
  caused by a mutation in the FGFR3 gene that
  impairs the growth of bone in the limbs and
  causes abnormal growth in the spine and
  skull.There is an approximate of about 20-50
  of children who are suffering with achondroplasia
  will experience a neurological impairment. This
  is caused by compression created as they
  literally grow faster than their bones.The
  stunted bone growth at the base of the skull and
  the spine can cause the spinal cord and brain
  stem to become compressed.Achondroplasia can
  further lead to key nervous system structures
  such as the brain stem, spinal cord, spinal nerve
  roots and cerebrospinal fluid (CSF) spaces to
  also compress.

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How is achondroplasia diagnosed?

• Achondroplasia can easily be diagnosed prior to
  birth via fetal ultrasound or after birth via
  complete medical history and physical
  examination.There is now an availability of DNA
  testing before birth to confirm fetal ultrasound
  findings for parents who are at increased risk
  for having a child with achondroplasia.One
  should be looking carefully for signs of muscle
  weakness, changes in bowel or bladder function,
  asymmetrical reflexes or respiratory problems
  like sleep apnea, if his child has been diagnosed
  with achondroplasia.If any of above mentioned
  symptoms is present in your child, youll want to
  obtain a thorough work-up of him by consulting a
  pediatric neurologist, pediatric neurosurgeon or
  pediatric orthopedist, along with magnetic
  resonance imaging (MRI) of the childs head, neck
  or spine.

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Symptoms of achondroplasia

• The following are the most common symptoms of
  achondroplasia. However, each child may
  experience symptoms differently. Some of the
  symptoms of achondroplasia may include
• shortened arms and legs, with the upper arms and
  thighs more shortened than the forearms and lower
  legs
• big head size with prominent forehead and a
  flattened nasal bridge
• crowded or misaligned teeth
• Curved lower spine a condition also called
  lordosis (or "sway-back") which may lead to
  kyphosis, or the development of a small hump near
  the shoulders that usually goes away after the
  child begins walking.

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Symptoms of achondroplasia
Continue

• bowed lower legs
• flat feet which are short and broad
• Extra space between the middle and ring fingers
  (Also called a trident hand.)
• poor muscle tone and loose joints
• frequent middle ear infections which may lead to
  hearing loss
• normal intelligence
• delayed developmental milestones like walking
• The symptoms of achondroplasia may resemble
  other problems or medical conditions. Always talk
  with your child's doctor for a diagnosis.

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Treatment for achondroplasia

• A surgeon can remove bone and ligaments from the
  problem area to make more room for neural
  structures, if a dangerously compressed region of
  the foramen magnum or spinal column is
  found.Surgical decompression is considered to
  be the most successful when it is performed
  quickly as symptoms are allowed to progress for
  months or years can become permanent.One end is
  placed in the childs ventricle and the other in
  his or her abdomen. CSF is allowed to flow at a
  controlled pace out of the childs head into his
  or her abdomen, where it can be quickly and
  safely absorbed into the bloodstream.When
  symptoms are determined and acted upon in a
  timely manner, modern medical and surgical care
  allows achondroplastic children to grow up with
  intellectual and social capacities equal to that
  of other children.

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