Related Questions

Help! What is achondroplasia?

A type of dwarfism. Achondroplasia is a type of dwarfism associated with shortened bones, large head and other findings. Most affected people have no family history (75-80%) and it is associated with paternal age (father of the baby) greater then 35. Individuals who have achondroplasia carry the abnormal gene and have a 50% chance of having an affected child if one parent is affected and higher if both are affected. Read more...
Let me help you. Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3½ inches) for males and 123 cm (4 feet, ½ inch) for females. The prevalence is approximately 1 in 25, 000. Read more...
Achondroplasia. Achondroplasia is an autosomal dominant condition that affects the bones of the skeleton. Read more...

Who/what is achondroplasia named after?

Words. Achondroplasia is just a descriptive term.The plasia refers to growth, chondro to the basic cells the build the precursors of bone and "a" to signify without or abnormality of.These are word building blocks from the greek language. Read more...

Help me out here: what is achondroplasia?

Dwarfism: Most people with short-limb dwarfism have achondroplasia. Bones grow mostly by making a plate of cartilage near the joint; people with achondroplasia cannot make cartilage, and their long bones grow very slowly. Read more...
Little people Dx. Achondroplasia is a condition of irregular cartilage formation(leading to slow or minimal long bone growth) caused by a gene mutation (new or inherited).This results in short limbs and vertebrae, relatively large head, slow muscle control but normal intelligence.Adults averge 48-50 inch height, patients have specific health issues. Read more...

What exactly is achondroplasia? Who was the person to discover it?

Dwarfism. Achondroplasia, the most common cause of nonlethal short limb dwarfism is characterized by macrocephaly (disproportionately large head) and rhizomelia (short proximal long bones in amrs/legs). Heterozygous individuals have a normal life span and normal intelligence. Homozygous achondroplasia is parinatally lethal. Incidence of nonlethal form:1:10, 000-1:30, 000. Typically de novo paternal mutations. Read more...
Dr Zacharias gave a. description. The cause for Achondroplasia was discovered by Dr.John Wasmuth and his reserach team in 1994. However, dwarfism had been studied by a number of scientists prior to this. Read more...

What exactly is achondroplasia dwarfism?

Achondroplasia. ... is a form of short-limbed dwarfism. It's a genetic condition that affects the long bones. Although it is heritable, most children with the condition (up to 80%) have parents with normal stature and have achondroplasia as a result of new ("de novo") genetic mutation. The incidence is about 1 per 26,000 live births. Intelligence and life span are normal. Read more...

What do people with achondroplasia look like?

Short limbs. Achondroplasia, or more commonly known as dwarfism, is one of the more common congenital syndromes. Occurring about 1:28,000 live pregnancies, people with this syndrome have normally sized trunk with short arms and legs, and a normal to slightly large-sized head. You can find pictures of people with achondroplasia online for a visual answer. Look up www.garyparker.com for pix. Read more...

Can any doc tell me what's it like having achondroplasia?

Achondroplasia. I would suggest a better way to answer this question is to go to web sites that deal with achondroplasia and speak with adults who have this disorder and find out from them what it is like to live with this disorder. Read more...

What are the tests for achondroplasia?

Dwarfism. It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder. Achondroplasia can be detected before birth by the use of prenatal ultrasound. A dna test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited. Also we could use radiology findings. Read more...

What are the causes of achondroplasia?

New mutation. Most cases arise from a new mutation to normal parents. It can also be transmitted in autosomal dominant fashion if parent (s) are affected by same condition. Read more...
Mostly random. Most cases arise from a new mutation to normal parents. Achondroplasia is inherited in autosomal dominant fashion as well. Therefore, couples with achondroplasia marries, they have a 25% risk of transmitting their condition , homozygous achondroplasia , to each offspring. Read more...