What is achondroplasia (short stature conditions)?
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More than 100 specific conditions have been identified that can cause short stature. Some of these involve a genetic bone disorder in which the bones do not grow and develop normally.
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Achondroplasia is the most common short stature condition. Children affected with achondroplasia have very short arms and legs while their torso is normal size. Their heads are often large.
How common is it?
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Achondroplasia occurs in all races and with equal frequency in males and females, and affects about 1 in every 26,000 children.
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There are an estimated 10,000 individuals with achondroplasia in the United States.
What are some characteristics of children with achondroplasia?
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Features or effects of achondroplasia include
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Short arms and legs
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A large head with a prominent forehead
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Small midface with a flattened nasal bridge
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Spinal curvature; back and neck problems
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Short fingers and toes; extra space between middle and ring fingers
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Crowded or crooked teeth
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Bowleg (varus) or knock-knee (valgus) deformities
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Frequent ear infections
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Vision problems
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Hearing loss
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Respiratory and breathing problems
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Extra fluid within the brain (hydrocephalus)
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Normal intelligence
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Overall, development is usually normal, yet children with achondroplasia may reach motor milestones of development slowly.
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For instance, good head control may not occur until the infant is 7 or 8 months old, because it takes longer to develop the muscular strength necessary to control the large head.
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Though there are exceptions, many of these children do not walk until relatively late, often between 24 and 36 months.
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Weight control is a frequent and lifelong problem for many people with this disorder. Children and adults must be careful of their nutrition because they tend to gain weight easily.
Who is the treatment team?
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Children with achondroplasia will often see pediatric specialists in dentistry, orthopedics (bone), and otolaryn-gology (ear, nose, and throat) for their complications.
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Physical and occupational therapy may be needed to help these children achieve normal motor milestones.
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Sometimes surgery is done to help with some of the related physical problems.
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Children who are younger than 3 years may receive therapies through
early intervention services. -
For children 3 years and older,
special education and related services are available through public schools to provide the accommodations necessary for school achievement and adaptation.
What adaptations may be needed?
Physical environment
Care Plans may include
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Adaptive equipment to support the head and spine of these children when they are younger.
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As they grow, physical adaptations (eg, lowered door-knobs, blackboards, foot supports for desks and toilets) can be used for many activities of daily living to promote independence.
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Many children will appear younger than their age because of their short stature. Be sure to take their age and normal intelligence into account as you interact with them.
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Many children are at risk for teasing because of their physical appearance. Work to foster self-confidence with the child as well as understanding among his classmates.
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When conducting physical activity in class, be aware that jumping can cause unnecessary stress on joints, especially the spine. Low-impact activity is encouraged.
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Gymnastics and contact sports should be avoided because of potential risk of spine injury. Swimming and biking are encouraged. Adaptive foot pedals on bicycles to accommodate short limbs are helpful.
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Be aware of possible hearing loss in a child who does not respond to you.
What should be considered an emergency?
Notify parents/guardians immediately for
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Unexplained numbness or tingling in the arms and legs
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Change in gait when walking
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Change in bowel or bladder control
What are some resources?
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Little People of America,www.lpaonline.org
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Human Growth Foundation,www.hgfound.org, 800/451-6434
Source: Managing Chronic Health Needs in Child Care and Schools: A Quick Reference Guide.
Products are mentioned for informational purposes only. Inclusion in this publication does not imply endorsement by the American Academy of Pediatrics
Listing of resources does not imply an endorsement by the American Academy of Pediatrics (AAP). The AAP is not responsible for the content of external resources. Information was current at the time of publication.
The information contained in this publication should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.