An Overview of Achondroplasia Drawfism Disease
Achondroplasia drawfism disease (known simply as achondroplasia) is a bone growth disorder that affects 1 in 15,000 to 40,000 births. Common health problems relating to achondroplasia include: breathing disorders (apnea), obesity, recurrent
ear infections, reduced muscle strength, and crowded teeth.
Other names for achondroplasia include:
ACH
Chondrodystrophia fetalis
Chondrodystrophy syndrome
Congenital osteosclerosis
Dwarf, achondroplastic
Osteosclerosis congenital.
What Are the Causes of Achondroplasia Drawfism Disease?
Some people wonder, "
What are the causes of achondroplasia dwarfism?" The two causes of this condition are a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene or a gene inheritance from a parent with dwarfism achondroplasia.
Inheritance Pattern of Achondroplasia Dwarfism Disease
The
inheritance pattern of achondroplasia dwarfism can occur in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one of the parents with achondroplasia passes the FGFR3 gene on to the child.
If one parent has achondroplasia, a child has a 50% chance of inheriting the altered FGFR3 gene. If both parents have achondroplasia, a child has a 25% chance of inheriting the altered gene from both parents. Newborns who inherit two copies of the altered gene are considered to have a severe form of
achondroplasia dwarfism where survival is usually less than 12 months after birth.
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