Bones Home > Achondroplasia Dwarfism Disease

Achondroplasia is a bone growth disease. It is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene or a gene inheritance from a parent who has the disease. While there is no cure for achondroplasia, there are treatments that can improve the symptoms and conditions (such as ear infections and dwarfism) that occur as a result of the disease.

What Is Achondroplasia Dwarfism 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
  • Crowded teeth.
 
Other names for achondroplasia include:
 
  • ACH
  • Chondrodystrophia fetalis
  • Chondrodystrophy syndrome
  • Congenital osteosclerosis
  • Dwarf, achondroplastic
  • Osteosclerosis congenital.
 

What Are the Causes of Achondroplasia?

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.
 
Written by/reviewed by:
Last reviewed by: Arthur Schoenstadt, MD
Last updated/reviewed:
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