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Achondroplasia is the most common type of dwarfism, in which the child's arms and legs are short in proportion to body length. The head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches) and the average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).
The following are the most common symptoms of achondroplasia. But each child may experience symptoms differently.
• shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs
• large 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
• small vertebral canals (back bones) - may lead to spinal cord compression in adolescence. Occasionally
children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression
of the upper end of the spinal cord, which interferes with breathing.
• bowed lower legs
• flat feet that 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 such as walking (which may occur between 18 to 24 months instead of around
one year of age)
In some cases, the child inherits the achondroplasia from a parent with the disorder but most cases — about 80 percent — are caused by a new mutation in the family. This means the parents are of average height and do not have the abnormal gene.
However, people with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.
Fathers who are older than 45 years higher chance of having children with certain genetic disorders including achondroplasia. At this time, researchers have not uncovered a particular mutations in sperm that is linked to the disorder.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”