What Is Achondroplasia?
What is Achondroplasia?
Commonly known as dwarfism. It is the most common type of short-limbed disproportionate dwarfism. The term achondroplasia was first used by Parrot in 1878. Although the term ‘achondroplasia’ literally means ‘without cartilage’, but in achondroplasia, the cartilage is formed but it does not get converted to bone especially, in the limbs. People with achondroplasia have short arms and legs, normal size trunk and a large head.
Another condition similar to achondroplasia is hypochondroplasia but the symptoms tend to be more severe in achondroplasia.
What causes achondroplasia?
It is a rare genetic disorder which gets transmitted as autosomal dominant trait. This means that one copy of altered gene in each cell is enough to cause the disease.
Chromosomes are found …show more content…
These are random mutations. They have normal sized parents and there is no family history of dwarfism. The remaining cases, have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These cases are usually still birth or die soon after birth due to respiratory failure.
When both parents have achondroplasia, 75% of their offspring is affected, of which, 25% are homozygous i.e. they have two copies of the gene (which is ordinarily fatal in the first few months of life), 50% is heterozygous (have only one copy of gene), and 25% are unaffected. When one parent has achondroplasia, the chance of transmitting this gene to each child is 50%.
How common is Achondroplasia?
Achondroplasia appears to affect males and females in equal numbers. All races are affected equally. About 10,000 individuals have achondroplasia in the United States. Worldwide, achondroplasia is the most common skeletal dysplasia, affecting about 1 in every 40,000
Commonly known as dwarfism. It is the most common type of short-limbed disproportionate dwarfism. The term achondroplasia was first used by Parrot in 1878. Although the term ‘achondroplasia’ literally means ‘without cartilage’, but in achondroplasia, the cartilage is formed but it does not get converted to bone especially, in the limbs. People with achondroplasia have short arms and legs, normal size trunk and a large head.
Another condition similar to achondroplasia is hypochondroplasia but the symptoms tend to be more severe in achondroplasia.
What causes achondroplasia?
It is a rare genetic disorder which gets transmitted as autosomal dominant trait. This means that one copy of altered gene in each cell is enough to cause the disease.
Chromosomes are found …show more content…
These are random mutations. They have normal sized parents and there is no family history of dwarfism. The remaining cases, have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These cases are usually still birth or die soon after birth due to respiratory failure.
When both parents have achondroplasia, 75% of their offspring is affected, of which, 25% are homozygous i.e. they have two copies of the gene (which is ordinarily fatal in the first few months of life), 50% is heterozygous (have only one copy of gene), and 25% are unaffected. When one parent has achondroplasia, the chance of transmitting this gene to each child is 50%.
How common is Achondroplasia?
Achondroplasia appears to affect males and females in equal numbers. All races are affected equally. About 10,000 individuals have achondroplasia in the United States. Worldwide, achondroplasia is the most common skeletal dysplasia, affecting about 1 in every 40,000