Doctor insights on:
Punnett Square Gene Disorder For Achondroplasia
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
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?
Dwarfism: About 1 in 20, 000 births. Genetic defect causes poor bone growth. Affected persons have a large head with small bones in the mid face. The arms and legs are short, but the trunk is long. Intelligence is usually normal, but walking is often delayed. They can have problems with the spinal cord being compressed. They can have children, but there is a high risk >50% of passing the defect to offspring. ...Read more
Should I be concerned if my friend is suffering from achondroplasia, wht is his percentage of diasability?
Can be a plus: I know a couple of achondroplastic dwarves and they like it -- one is an orthopedic surgeon treating other dwarves. He dislikes being called "handicapped / disabled". Let your friend decide how he/she feels about it all, and accept whatever she chooses. She's already gotten advice about how her being a dwarf affects accommodations that others must make in the workplace. ...Read more
Abnormal bone growth: 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 bowed or knock knees. ...Read more