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.
Symptom # 1
Shorter legs and arms w/ limited mobility
Curvature of spine
Symptom # 2
The karyotype of a person with Dwarfism or Coffin Syndrome. Fourth chromosome is affected.
The inheritance of the dwarf gene
Treatment and Research Outlook
Surgical procedures, leg lengthening and also hormone therapy.
Researchers are working on treatments for skeletal dysplasis.