Genetic diseases or disorders result from a mutation in the genes (DNA). Sometimes, one gene can be mutated or a group of genes become mutated. In fact, some genes are passed within families. These genetic alterations can significantly affect a person's appearance. Unfortunately, the different genetic mutations that lead to these diseases have no specific treatment.
Achondroplasia
Achondroplasia is a type of bone disorder that leads to dwarfism. Specific symptoms of achondroplasia include bowed legs, decreased muscle tone, spinal stenosis, a large head as compared to the body and a stooped posture that is medically known as kyphosis. Achondroplasia also leads to a short stature and an enlarged forehead.
Achondroplasia is an autosomal dominant trait: the affected person can inherit one defective gene from either parent and still develop this condition. Most achondroplasia results from spontaneous mutations.
Achondroplasia sufferers rarely reach five feet. Complications of achondroplasia include clubbed feet and hydrocephalus, an accumulation of fluid in the brain.
Down Syndrome
Down syndrome is another genetic disease in which a person possess 47 chromosomes (set of genes) instead of the typical 46. Specific signs of Down syndrome include small ears, a small mouth, eyes that slant upwards and short fingers. A person with Down syndrome also may have a flat nose, excess skin at the neck and a crease on the palm of the hand. Children with Down syndrome may be impulsive and have difficulty learning.
Approximately 50 percent of children with Down syndrome develop heart problems that can reduce their lifespan. Some complications of Down syndrome include heart problems, frequent ear infections, endocarditis (heart infection) and hearing loss.
Turner Syndrome
Turner syndrome refers to a genetic disease that primarily affects females. In this disease, the females are missing one sex chromosome.
Signs of Turner's syndrome during birth and infancy include a wide neck, low set ears, a broad chest, outwardly turned arms and feet and hand swelling. During adolescence, females with Turner syndrome display learning disabilities, a short stature, learning disabilities and trouble handling social situations.
People with Turner syndrome can have heart defects, hearing loss, kidney problems, dental problems, curvature of the spine, depression and anxiety.
