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What are some other names for achondroplasia?

What are some other names for achondroplasia?

Synonyms of Achondroplasia

  • ACH.
  • achondroplastic dwarfism.
  • dwarf, achondroplastic.

What is the common name for the congenital disorder achondroplasia?

Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It’s the most common type of disproportionate dwarfism.

What is the most common form of achondroplasia?

The most common type of disproportionate dwarfism—and the most common type of dwarfism in general—is achondroplasia. This is when a person has a normal-size torso but short arms and legs. 2. Proportionate dwarfism: This means that the person is smaller than average all over.

What is the name of the protein for achondroplasia?

Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia.

Do dachshunds have achondroplasia?

Animals. Based on their disproportionate dwarfism, some dog breeds traditionally have been classified as “achondroplastic”. This is the case for the dachshund, basset hound, corgi and bulldog breeds.

How did achondroplasia get its name?

The word achondroplasia literally means “without cartilage formation.” Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development.

What are the types of dwarfism?

There are two main categories of dwarfism — disproportionate and proportionate. Disproportionate dwarfism is characterized by an average-size torso and shorter arms and legs or a shortened trunk with longer limbs. In proportionate dwarfism, the body parts are in proportion but shortened.

What is homozygous achondroplasia?

In the case of achondroplasia, the homozygous dominant genotype results in a lethal phenotype. These fetuses are stillborn or die shortly after birth. The phenotype is determined by a dominant allele that interferes with bone growth during development.

Does my baby have achondroplasia?

Characteristic features of an infant with achondroplasia include: Disproportionately large head-to-body size difference with shortened arms and legs (especially the upper arm and thigh) Prominent forehead (frontal bossing) and depressed nasal bridge. Underdeveloped midface and relative jawbone prominence.

Why are corgi legs so short?

Ultimately, their short legs are caused by a genetic mutation. At some point in history, a gene mutated and started shortening the legs of these Welsh Corgis. But they are perfect for herding, which is what the first short-legged corgis were bred for about 300 years ago.