Frequently Asked Questions1. Which doctor can I consult if my baby is diagnosed with achondroplasia?
You will have to consult a pediatrician, orthopedic surgeon, dental surgeon and a neurosurgeon depending on the complication that requires treatment.
2. What can be done for patients with achondroplasia?
Children and adults with achondroplasia can lead normal lives provided they receive attentive, informed care by their physicians and parents.
3. Is being a dwarf considered a disability?
People with achondroplasia can live a normal life although they might have other complications they have to deal with in life. They are intellectually on par with others. However, they do get disability benefits in America.
4. How many different types of dwarfism are there?
There are several types of dwarfism which are classified into two main types – proportionate dwarfism where the person is short but the body parts are proportionate, and disproportionate dwarfism which includes achondroplasia.
5. What does double dominance mean?
A person having achondroplasia has one dwarfism gene and one average-size gene. When two parents with achondroplasia have a baby, there is a 50% chance that the child will have one dwarf and one average-size gene and have achondroplasia, just like either parent. There is a 25% chance that the child will inherit the average-size gene from both the parents and be of normal height. The 4th scenario when the child inherits the dwarf genes from both parents (25% chance) is known as double dominance and is lethal.
6. Are there other syndromes that affect the same gene as achondroplasia?
Yes, thanatophoric dysplasia (TD) and hypochondroplasia also occur due to defects in the FGFR3 gene.
Hypochondroplasia is classified as short-limbed dwarfism and has clinical features similar to achondroplasia but are milder.
Thanatophoric dysplasia is a severe skeletal disorder resulting in stillborn children or death shortly after birth from respiratory failure.
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