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A 43-year-old member asked:

who/what is achondroplasia named after?

1 doctor answer1 doctor weighed in
Dr. James Ferguson
Pediatrics 46 years experience
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.

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A 52-year-old member asked:

What sort of problem is achondroplasia?

2 doctor answers5 doctors weighed in
Dr. Edward Evans
Neonatology 18 years experience
Dwarfism: Achondroplasia, is a birth defect resulting in dwarfism. Dwarfs, or little people have this birth defect. It results from a chromosome problem. Those born with this defect can have multiple problems including difficulty breathing, this can be serious and certain types can be fatal.
A 30-year-old member asked:

Help! what is achondroplasia?

5 doctor answers14 doctors weighed in
Dr. Kelley Clark
Dr. Kelley Clark answered
Obstetrics and Gynecology 31 years experience
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.
A 43-year-old member asked:

What are the symptoms associated with achondroplasia?

1 doctor answer1 doctor weighed in
Dr. Nela Cordero
Pediatrics 54 years experience
DWARFISM: Dwarf with bulky forehead, saddle nose, lumbar lordosis, bowlegs inherited as autosomal dominant.
A 34-year-old member asked:

What are the tests for achondroplasia?

1 doctor answer6 doctors weighed in
Dr. Ahmad M Hadied
Orthopedic Surgery 49 years experience
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.
A 37-year-old member asked:

What are the symptoms of achondroplasia?

1 doctor answer4 doctors weighed in
Dr. Ahmad M Hadied
Orthopedic Surgery 49 years experience
Short stature: Short stature an average-size trunk. An enlarged head (macrocephaly) with a prominent forehead. Short fingers. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. Short arms and legs with particularly short upper arms and thighs. People with achondroplasia are generally of normal intelligence.

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Last updated Dec 28, 2013

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