Achondroplasia

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: David Perlstein, MD, MBA, FAAP
    David Perlstein, MD, MBA, FAAP

    David Perlstein, MD, MBA, FAAP

    Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

What gene causes achondroplasia?

Achondroplasia is caused by mutations in the FGFR3 gene which codes for a protein (fibroblast growth factor receptor 3) that is important for the maintenance of bone and brain tissues. Two specific mutations in this gene are responsible for almost all cases of achondroplasia. These mutations limit the process of ossification, or the formation of bone from cartilage. The FGFR3 gene is located on the short (p) arm of chromosome 4 in chromosome band 4p16.3.

Medically reviewed by Aimee V. HachigianGould, MD; American Board of Orthopaedic Surgery

REFERENCES:

Genetics Home Reference. Achondroplasia.

Genetic and Rare Diseases Information Center (GARD). Achondroplasia. NIH Office of Rare Diseases Research.

Medscape. Achondroplasia.

PubMedHealth. Achondroplasia.

Medically Reviewed by a Doctor on 11/5/2015
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