PseudoachondroplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Pseudoachondroplasia
View Main Condition: Short Stature (Growth Disorders)
Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.
Mutations in the COMP gene cause pseudoachondroplasia. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.
The exact prevalence of pseudoachondroplasia is unknown; it is estimated to occur in 1 in 30,000 individuals.
Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Jacqueline Hecht is a Medical Genetics provider in Houston, Texas. Dr. Hecht is rated as an Elite provider by MediFind in the treatment of Pseudoachondroplasia. Her top areas of expertise are Pseudoachondroplasia, Achondroplasia, Cleft Lip and Palate, Adenoidectomy, and Myringotomy.
Geisinger Mount Pocono - Community Medicine
Dr. Hossain is a board-certified physician specializing in family medicine. He earned his medical degree from Sher-E-Bangla Medical College in Bangladesh. He then moved to the United States to complete his residency at Latrobe Area Hospital. Dr. Hossain is certified by the American Board of Family Medicine. He speaks English, Hindi and Bengali. Dr. Hossain is rated as a Distinguished provider by MediFind in the treatment of Pseudoachondroplasia. His top areas of expertise are Deep Vein Thrombosis, Pseudoachondroplasia, Factor V Leiden Thrombophilia, and Type 1 Diabetes (T1D).
Michael Briggs practices in Newcastle Upon Tyne, United Kingdom. Mr. Briggs is rated as a Distinguished expert by MediFind in the treatment of Pseudoachondroplasia. His top areas of expertise are Pseudoachondroplasia, Metaphyseal Chondrodysplasia Schmid Type, Multiple Epiphyseal Dysplasia, and Schwartz-Jampel Syndrome.
Published Date: January 01, 2013
Published By: National Institutes of Health