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Genetic Disorder in Children
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ACHONDROPLASIA
IN CHILDREN
What is achondroplasia?
Achondroplasia is derived from the Greek word "without cartilage formations". In patients with achondroplasia only a small amount of cartilage forms bones leading to short bones and reduced height. Achondroplasia leads to relatively normal torso and short arms and legs (disproportionate short
stature). The average adult height in achondroplasia is about 4 feet for both men and women.
What are the signs and symptoms of achondroplasia?
In a child with achondroplasia, the upper arms and thigh are more shortened than the forearms and lower legs. Generally, the head is large. Teeth may be crowded and upper & lower teeth may be poorly aligned. A person with achondroplasia usually has a relatively straight upper back with markedly curved lower spine. Hands are short with stubby fingers that easily bend backward due to weakened joints. Lower legs may become bowed and feet are generally short, broad and flat. Because of large head, short arms and legs and loose joints, a baby with achondroplasia is slow to sit, stand and walk alone. However intelligence is normal.
Patients have frequent ear infections which can lead to mild to moderate hearing loss.
What is the diagnosis of achondroplasia?
Achondroplasia is a genetic disorder. It is an autosomal dominant disorder i.e., a child inherits achondroplasia from a parent who has the condition. If one parent has achondroplasia and the other one does not, then with every pregnancy there is a 50 percent chance that the child will be affected. If both parents have achondroplasia, there is a 50 percent chance that the child will inherit the condition, 25 percent chance that the child will not have it and 25 percent chance that the child will inherit one abnormal gene from each parent and have severe skeletal abnormalities that lead to early death.
In most cases (over 75 percent), achondroplasia is not inherited but due to a new mutation. Parents of such children are normal and their chance of having a second child with achondroplasia is extremely small.
Diagnosis of achondroplasia is based on clinical signs and symptoms and specific features on X-rays. Specific mutation can be checked for by DNA analysis.
What are the signs and symptoms of achondroplasia?
In a child with achondroplasia, the upper arms and thigh are more shortened than the forearms and lower legs. Generally, the head is large. Teeth may be crowded and upper & lower teeth may be poorly aligned. A person with achondroplasia usually has a relatively straight upper back with markedly curved lower spine. Hands are short with stubby fingers that easily bend backward due to weakened joints. Lower legs may become bowed and feet are generally short, broad and flat. Because of large head, short arms and legs and loose joints, a baby with achondroplasia is slow to sit, stand and walk alone. However intelligence is normal.
Patients have frequent ear infections which can lead to mild to moderate hearing loss.
What is the diagnosis of achondroplasia?
Achondroplasia is a genetic disorder. It is an autosomal dominant disorder i.e., a child inherits achondroplasia from a parent who has the condition. If one parent has achondroplasia and the other one does not, then with every pregnancy there is a 50 percent chance that the child will be affected. If both parents have achondroplasia, there is a 50 percent chance that the child will inherit the condition, 25 percent chance that the child will not have it and 25 percent chance that the child will inherit one abnormal gene from each parent and have severe skeletal abnormalities that lead to early death.
In most cases (over 75 percent), achondroplasia is not inherited but due to a new mutation. Parents of such children are normal and their chance of having a second child with achondroplasia is extremely small.
Diagnosis of achondroplasia is based on clinical signs and symptoms and specific features on X-rays. Specific mutation can be checked for by DNA analysis.
Genetic Disorder Specialist
Answer
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