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Doctor insights on: Achondroplasia Mutation Analysis

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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Dr. Letha Mathews
75 doctors shared insights

Achondroplasia (Definition)

that is caused by a mutation affecting fibroblast growth factor and results in shortened bones. It is one of the major causes of dysproporotinate dwarfism. The mutation can be spontaneous, especially in advanced paternal age, or inherited as an autosomal dominant. It especially affects the proximal limb bones, prominent forehead, increased lordosis or kyphosis and either ...Read more


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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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Can achondroplasia occur in adults if the mutation occurs in the fgfr3 gene during adulthood?

Can achondroplasia occur in adults if the mutation occurs in the fgfr3 gene during adulthood?

Childhood disease: Achondroplasia is usually a mutation that presents itself in a newborn child not adults. ...Read more

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What kind of mutation is involved in achondroplasia?

What kind of mutation is involved in achondroplasia?

Autosomal Dominant: The commonly seen form of achondroplasia is an autosomal dominant form of short limb dwarfism. 80% are new mutations but it can be passed parent to child at a 50%/pregnancy rate. A fetus with a pair of achondroplasia genes has a severe condition & is unlikely to survive infancy. Their are a number of conditions that produce "little people" & you may be thinking of another condition. ...Read more

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Have one girl 6 yrs,normal, aborted in boy 20 weeks, thanataphoric achondroplasia, I read it is gene mutation, how much risk of recurrence,possiblity?

Have one girl 6 yrs,normal, aborted in boy 20 weeks, thanataphoric achondroplasia, I read it is gene mutation, how much risk of recurrence,possiblity?

No difference: Sorry to hear that. Risk of recurrence for parents who have had one affected child is not significantly increased over that of the general population. http://www.ncbi.nlm.nih.gov/books/NBK1366/ ...Read more

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How tall can someone with achondroplasia grow?

How tall can someone with achondroplasia grow?

Ir depends: Growth and head circumference measurements plotted on growth curves standardized for achondroplasia. It can be different for individual cases, gender, genetics. ...Read more

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Where to get information about achondroplasia?

Apparently here: Achondroplasia is the most common type of dwarfism. A good reference for information is the little people society of america http://www.Lpaonline.Org/ particularly if you or a family member is having a child affected by it. ...Read more

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My friend is suffering from achondroplasia. What is the likelihood that he would be disabled?

My friend is suffering from achondroplasia. What is the likelihood that he would be disabled?

Achondroplasia: Like any other disease, achondroplasia severity varies in different patients. Mild forms just have their height affected-- short stature. Moderate to severe forms can have disability at different levels. No test can predetermine the severity. So your friend's body will tell us as time passes. ...Read more

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Is there a mild form of achondroplasia? A semi-dwarf?

Several short types: The commonly seen form of achondroplasia is an autosomal dominant form of short limb dwarfism. 80% are new mutations but it can be passed parent to child at a 50%/pregnancy rate. A fetus with a pair of achondroplasia genes has a severe condition & is unlikely to survive infancy. Their are a number of conditions that produce "little people" & you may be thinking of another condition. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more