Chromosomal Disorder

Definition and Cause of Disorder

Pierre Marteaux discovered the link between genetic condition and prenatal micromelic dwarfism of the patients.

Caused by a random mutation in either the sperm or the egg.

Genes interfere with the development of cartilage and bones.

Interference causes a short stature since large bones are in the arms and legs.

1 in 15,000 to 1 in 40,000 people are affected.

Treatment and Research Outlook

Genetic, Hormone and Measurement testing.
Surgical procedures, leg lengthening and also hormone therapy.
Researchers are working on treatments for skeletal dysplasis.

About me

While taking Biology we have been studying genetic mutations. Little people are scrutinized and are misunderstood which is why I decided to study them and their mutation.