Achondroplasia Dwarfism - Research Paper Example

The DNA segments carried on the chromosomes are known as genes that codes for proteins to help build and maintain the cells and pass on the traits or characteristics like eye color, height etc. to future generations. (Louis E. Bartoshesky, Teens Health, April 2009). DNA comprises of four chemicals adenine (A), guanine (G), cytosine (C) and thymine (T) that combine to form proteins that in turn help the body to develop and grow. Diseases that arise due to the change in the genetic material of an individual are known as genetic disorders.

Some genetic disorders can be harmless while other can be more serious. These disorders are of four types that can be passed on from ancestors while other may be caused due to environmental or chemical factors (Robin Doak, 2). These genetic disorders are of four types: 1. Single – gene / Mendelian / Monogenic is the mutation or change that occurs in single gene of DNA sequence. Mutation in a single gene stops its normal functioning thus causing disorder. There are more than 5000 types of single gene disorders.

There are different types of single gene disorders (Robin L. Bennett, 23): Autosomal dominant where only one abnormal from one parent is enough to cause the disorder. Autosomal recessive where two mutated genes are required to cause the disorder. X-linked dominant and recessive caused by mutation of X chromosomes. Y-linked caused by mutation of Y chromosome. Dwarfism is a skeletal deformity usually inherited resulting in short stature of adults that is caused due to genetic or medical disorders where the average height of an adult is 4 feet 10 inches (William A.

Petit, Christine A. Adamec, 69). There are almost 200 different types of dwarfism that are categorized into two forms: Proportionate form of dwarfism has overall small structure. Primordial dwarfism, Seckel syndrome etc. Disproportionate form of dwarfism has one or more body parts large or small than average size adult. Achondroplasia also known as ACH, Chondrodystrophia fetalis, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf achondroplastic or Osteosclerosis congenital is the most common disproportionate form of dwarfism where converting the cartilage into bone (ossification) is affected.

It comprises of almost 50 percent of all cases of dwarfism. It is a hereditary autosomal dominant disorder affecting the cartilage and bone growth (Joseph Anthony Joyce). There are 1 in 15,000 to 25,000 birth chances to be affected with this disorder worldwide. Dr. Johm Wasmuth along with his group of scientists found in 1994 that mutation of fibroblast growth factor receptor -3 (FGFR3) genes of human chromosome 4 cause achondroplasia (Who discovered it Website). The signs and symptoms of achondroplasia are: Large head with prominent forehead and Arms and legs are shorter compared to the trunk.

Space between ring and middle fingers with abnormal appearance. Lesser elbow movement Bowing legs (genu varum) Muscle tone decrease Achondroplasia can be detected by prenatal ultrasound showing excessive amniotic fluid along with a DNA test to detect homozygosity (two copies of mutated genes are inherited which is fatal). Common medical