Chondrodystrophy

CHONDRODYSTROPHY

NAMES:

ABOSEDE OLADELE

LYNDA DESHOMMES

SCHOOL: EASTWICK COLLEGE

                                                 PROFESSOR: MS. DEZART & MS.

Chondrodystrophy

According to an article that was published by Nordqvist, C. (2014, September 17). "What is short stature (dwarfism)? What causes short stature?" Medical News Today. Retrieved from

http://www.medicalnewstoday.com/articles/170880.php, defines Chondrodystrophy "cartilage mal development" as an autosomal recessive skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. In simple terms this disorder causing the bones not grow how it's is normally supposed to. This condition, although not talked about in the medical profession, can be seen in many cases around the world. The case where this disorder is most famously known is in the case of dwarfism.

The article also spoke about and expressed how the cartilage is converted to one that results in dwarfism. Normally, cartilage is converted to bone by a process called ossification. With Chondrodystrophy, the body has a problem growing cartilage and converting it to bone, especially in the long bones of the arms and legs. Chondrodystrophy happen because of a mutation in a gene that develops and maintains bone and brain tissue. These mutations occur before a baby is born. Parents of children born with Chondrodystrophy are well aware of their future child's condition. Knowing this prior to childbirth changes prenatal care of the child and mother. One type of Chondrodystrophy, achondroplasia, which is the most common cause of dwarfism. Further research shown that Chondrodystrophy can be inherited from a parent or can be caused by a random gene mutation. People with Chondrodystrophy have a normal-sized trunk and abnormally short limbs and extremities (Dwarfism).

Chondrodystrophy also can cause knock-knees condition in which the knees touch, but the ankles do not touch. The legs turn inward, bow-leggedness, or excessive curving of the

lower back (lordosis or kyphosis).

        To go more indepth, Chondrodystrophy, is a autosomal recessive disorder. When referring to a disorder as autosomal recessive, it is meant that the only way that this disorder can be seen is if the person who has the disorder must also have two copies of the allele for the disorder as well.

Prognosis

Chondrodystrophy is a disease which causes considerable deformity. However, with 

careful attention paid to the development of dangerous complications (nerve compression, hydrocephalus), most people are in good health, and can live a normal lifespan. Although patients with disorder can live a healthy life it is extremely important that the parents of the individual are well educated on the disorder.

Prevention

Unfortunately, research has shown that, the only form of prevention is through genetic counselling which could help parent assess their risk of having a child with achondroplasia. With medical technology evolving, through genetic manipulation it is possible to have a child without the disorder despite a person's genetic make-up. The most popular means of prevention is a adoption. Most cases are not avoidable so couples refer to adoption as a means of not passing along the gene that causes the disorder. Another form of prevention is through surrogacy, the process of giving birth as a surrogate mother, and in vitro fertilization., which is a complex series of procedures used to treat fertility or genetic problems. These common form of prevention, doesn't actually, remove the gene from an individual but it offers an alternative means of childbirth.

Medications & Treatments

There are no known treatments for Chondrodystrophy itself, but there are treatment methods for some of the dystrophies they cause. Even though this is irreversible, some of the complications of this disease can be addressed. They include problems due to nerve compression, hydrocephalus, bowed legs, and abnormal curves in the spine. Children who have this disease usually develop acute otitis media, which are middle ear infections which can be treated quickly with antibiotics and monitored to avoid hearing loss. Apart from those minor problems, those diagnosed with Chondrodystrophy have normal lives. However, there are a few drugs that are used for people with Achondroplasia. They are Orlistat, Phentermine and Somatropin. Orlistat, is a lipase inhibitor and it is prescribed for obesity in adults. It blocks the digestion of fats from the diet, which would avoid obesity in the adult. It should be taken by mouth with food. Those who are pregnant or who have had an organ transplanted should avoid taking this medication. Phentermine, is appetite suppressant that works by decreasing the appetite. Somatropin, is a synthetic human growth hormone that is prescribed for those who have a deficiency in growth hormone. It is a solution that is injected under the skin and blood sugar levels should be monitored. In addition, although quite expensive, a few surgical centers however take the risk of performing leg and arm lengthening experiments. This process is mainly done in India because of the initial custom to be tall. Nowadays experts are trying to use such methods to help those with Chondrodystrophy. Another thing parents tend to ignore is the fact that a little counseling goes a long way, parents should try to console their kids and remind them that they are normal. Also, parents need to know that Chondrodystrophy does not affects one's life or ability to do stuff. Those with the disorder are capable of carrying daily tasks and so forth. Often times uneducated parents shelter their child, due to the idea that they are some form of disabled, which is not the case. It is extremely important that individuals are independent and experiencing self-worth.