Achondroplasia
Achondroplasia is a form of short-limbed dwarfism. GENE: The FGFR3 gene makes a protein called fibroblast growth factor receptor 3. The function of the protein from the gene is involved in transforming cartilage into bone. FGFR3 is the only gene known to be related with achondroplasia. There is also a receptor called tyrosine kinase. It negatively regulates the growth plate activity and stright bone growth. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia. It can be inherited when one individual is less than the usual size and a normal sized individual produce a child. When achondroplasia is inherited, it is inherited in an autosomal dominant …show more content…
A growth hormone is produced in the anterior pituitary gland and stimulates the bone and muscle growth needed for normal physical growth in children. In dwarfism, it produces too little growth hormone secretion. Achondroplasia is correlated with the endocrine system and it may be treated using hormonal therapy. If the cause is during the period of preceding puberty of growth hormone, supplemental growth hormone may be used to correct the abnormality. Hypothyroidism is also another possible cause of achondroplasia that can be treated through hormonal therapy. To treat it they can get injections of thyroid hormones to decrease the effects of the condition, but physical problems may be irreversible. Pain and disabilities can be improved by physical therapy, for example they will use braces, other orthotic devices, or by surgical procedures. Sleep apnea, which involves brief periods of slowed breathing or breathing that stops is common in people with achondroplasia. Symptoms of sleep apnea include snoring and sleeping with the neck in a hyperextended condition. To treat sleep apnea, they sometimes perform adenotonsillectomy, which is a surgery that removes the tonsils to open up the airway. They also use methods like weight loss, and nasal-mask for continuous positive airway pressure. They can also have decreased muscle tone, which can cause delays in walking and other motor skills. At infancy the legs are straight, but once they
Achondroplasia is a form of short-limbed dwarfism. GENE: The FGFR3 gene makes a protein called fibroblast growth factor receptor 3. The function of the protein from the gene is involved in transforming cartilage into bone. FGFR3 is the only gene known to be related with achondroplasia. There is also a receptor called tyrosine kinase. It negatively regulates the growth plate activity and stright bone growth. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia. It can be inherited when one individual is less than the usual size and a normal sized individual produce a child. When achondroplasia is inherited, it is inherited in an autosomal dominant …show more content…
A growth hormone is produced in the anterior pituitary gland and stimulates the bone and muscle growth needed for normal physical growth in children. In dwarfism, it produces too little growth hormone secretion. Achondroplasia is correlated with the endocrine system and it may be treated using hormonal therapy. If the cause is during the period of preceding puberty of growth hormone, supplemental growth hormone may be used to correct the abnormality. Hypothyroidism is also another possible cause of achondroplasia that can be treated through hormonal therapy. To treat it they can get injections of thyroid hormones to decrease the effects of the condition, but physical problems may be irreversible. Pain and disabilities can be improved by physical therapy, for example they will use braces, other orthotic devices, or by surgical procedures. Sleep apnea, which involves brief periods of slowed breathing or breathing that stops is common in people with achondroplasia. Symptoms of sleep apnea include snoring and sleeping with the neck in a hyperextended condition. To treat sleep apnea, they sometimes perform adenotonsillectomy, which is a surgery that removes the tonsils to open up the airway. They also use methods like weight loss, and nasal-mask for continuous positive airway pressure. They can also have decreased muscle tone, which can cause delays in walking and other motor skills. At infancy the legs are straight, but once they