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
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
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
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
It is an autosomal dominant disorder. There is high risk of spontaneous mutations. See this site for more info.
http://www. Nlm. Nih. Gov/medlineplus/ency/article/001577.htm. ...Read more
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
My boy was 4.5 month older and was sentenced as achondroplasia in shanghai china. Not sure if any case in us. Really need help?
Achondroplasia: Many of the very, very short people in the U.S. Are achondroplastic dwarfs. Achondroplasia is not that rare. Some estimate that about 1 in 20, 000 people are this type of dwarf. In some cases, the child is the first person with achondroplasia in his family, but in most cases the affected child is born to an achondroplastic parent. More details at: http://ghr. Nlm. Nih. Gov/condition/achondroplasia. ...Read more