Achondroplasia

Achondroplasia

The specific type of disorder achondroplasia would be considered is the modern day dwarfism. Dwarfism occurs when an individual is short in stature resulting from a medical condition that causes slow growth of arms and limbs. In humans, dwarfism can be defined as an adult with the height of less than 4 feet 10 inches. This disorder is present today because of abnormalities in bone growth.

Other Names

By: Lachelle Carroll & Naminata Sanogo

Other Names

Achondroplasia- Dwarfism, Achondroplastic Dwarfism, Dwarfism, Dwarf, little people

Greek Name

Second Graphic

-This name was derived from the Greek Language in which it literally means “without cartilage formation”

Symptoms

Prognosis of the Disease

History

Impact on the Individual

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Achondroplasia has been around for many centuries dating as far as ancient times in Egypt. Various paintings show visible signs of figurines suffering from Achondroplasia. Jules Parrott was the first to actually give the disease its name in the 1800’s describing the group of individuals having short stature and lacking growth. It wasn't until July of 1994 in which the gene causing this disorder was discovered by Dr. John Wasmuth and his fellow colleagues at the University of California in Los Angeles, California. The disease was discovered in just 6 months when he and his team discovered that this type of dwarfism resulted from the mutation of the fibroblast growth factor receptor-3 gene, which is part of the human chromosome 4.

People with achondroplasia hardly ever reach 5 feet in height. Their intelligence is in the normal range. The life expectancy of someone with achondroplasia varies because it depends on the severity of the disorder.

People with this disease lead normal lives but Infants who receive the abnormal gene from both parents do not often live beyond a few months.

Individuals with this disease may face challenges such as not being tall enough to reach certain places or ride on amusement park rides. They may also face being ridiculed or awkward stares from others.

Diagnosis

Type of Genetic Disorder

Location on Chromosome

Video

Symptoms of achondroplasia include:

-Short stature significantly below average height for age and sex

-Short arms and legs, especially upper arms and thighs in comparison to body weight.

-Short fingers, large head compared to body

-Abnormally large forehead

-Undeveloped area of face between forehead and upper jaw

Type of Genetic Disorder

Location of Genetic Disorder

The location of this genetic disorder is found on the human chromosome 4.

Gene Therapy

To treat dwarfism, doctors use gene therapy as an option to help people affected, using growth hormone and any other hormone the person may be missing. The amount of each type of hormone given constantly changes though due to (metabolic) changes within the child. Different drug deliveries systems are used to get the growth hormone in the body systems

Current Research

Summary of one great story

Impact on the Individuals Family

European framework for program research: Gene Therapy is designed to introduce genetic material into cells to compensate for abnormal genes.

Ex: If a mutated gene cause a necessary protein to be faulty or missing, then gene therapy may be able to introduce a normal copy of the gene to restore the function of the protein.

Jon Novick was the first child born into a tall family with the disease of achondroplasia, his family was surprised but his mom was a biologist a previously did case studies. Through this she knew how she would raise her son. She wanted him to be independent and to adapt to the world and not the world adapt to him. Jon is now 21 years of age and attending college his is in his last year majoring in radio and tv.

This impact can have an impact on the individuals family members emotionally and socially if one is the primary caregiver of the person. In general this should not cause a negative impact to the family member.

Treatment Strategy

Treatment

-Radiographic skeletal survey

- Dysmorphology examination

- Family history assessment

-For prenatal diagnosis, high resolution ultrasound exam at 16-28 weeks gestation for evaluation of bone length proportions.

Currently there are no actual treatments that can cure achondroplasia because it is a physical abnormality. Hormones may be taken to increase height. In rare cases, surgery can help correct an abnormal curvature of the spine.