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A 46-year-old member asked:

are there multiple types of achondroplasia?

1 doctor answer1 doctor weighed in
Dr. James Ferguson
Pediatrics 46 years experience
Fetaure variations: About 90% represent new mutations but in those studied in great detail, all have the same base pair substitution in the gene. The gene regulating a fibroblast growth factor on chromosome 4 is the issue involved. There is some variation in the features of every case as there would be in people with no mutation.

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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 Clarkanswered
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 33-year-old member asked:

Is there a difference between achondroplasia dwarfism and other types?

1 doctor answer1 doctor weighed in
Dr. Edward Kuhnley
Child Psychiatry 45 years experience
Yes: Achondroplasia dwarfism is genetic & accounts for 70% of individuals with dwarfism. Growth hormone deficiency & other medical consitions are other potential causes of dwarfism.

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Last updated Nov 14, 2012

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