HypochondroplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Hypochondroplasia
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
The vast majority of cases of hypochondroplasia are caused by variants in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 gene variants lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. The overactive FGFR3 protein likely interferes with skeletal development and leads to the disturbances in bone growth that are characteristic of this disorder.
The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia.
Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia are born to parents who do not have the condition and are of average heights; these cases are caused by new variants in the FGFR3 gene. In the remaining cases, people with hypochondroplasia inherit an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have more severe problems with bone growth than those who inherit a single FGFR3 variant.
UT Southwestern - Pediatric Endocrinology
Nadia Merchant is a Pediatric Endocrinologist and a Pediatrics provider in Dallas, Texas. Dr. Merchant is rated as an Elite provider by MediFind in the treatment of Hypochondroplasia. Her top areas of expertise are Hypochondroplasia, Short Stature (Growth Disorders), Rommen Mueller Sybert Syndrome, Acanthosis Nigricans, and Thyroidectomy.
Nemours Children's Hospital, Delaware
Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Hypochondroplasia. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy.
Intermountain Health Denver Sports Medicine Clinic
"Dr. DaRosa is a non-surgical sports medicine physician and cares for patients and athletes of all ages. He specializes in the diagnosis and treatment of musculoskeletal conditions of all joints including sprains, strains, tendonitis, arthritis and cartilage injury, bursitis, back/neck pain, sports related concussion, and non-surgical fractures. Dr. DaRosa's goal is to get his patients safely back to the activities they love, whether it be professional sports or gardening in the back yard because ""LIFE is a Sport!""Dr. DaRosa is the team physician for the Colorado Raptors men's and Glendale Merlins women professional rugby teams and is a medical director for the Denver Public School Athletics where he does a weekly injury check for all DPS athletes. Dr. DaRosa has also served as team physician for the Indy Eleven professional soccer team, Indy Fuel professional hockey team, the Indianapolis Colts, as well as for multiple colleges and high schools since 2008.Dr. DaRosa graduated from Carthage College in Kenosha, Wisconsin where he was captain of the soccer team. He earned his medical degree from Des Moines College of Osteopathic Medicine and completed residency training at Saint Joseph Family Medicine in Denver. Dr. DaRosa completed a sports medicine fellowship at Indiana University in Indianapolis.In his spare time, Dr. DaRosa enjoys snowboarding, soccer, hiking with family, and playing the guitar.". Dr. Darosa is rated as an Advanced provider by MediFind in the treatment of Hypochondroplasia. His top areas of expertise are Hypochondroplasia, Pelvic Floor Dysfunction, Tendinitis, and Short Stature (Growth Disorders).
Summary: This is a long-term, multicenter, non-interventional study of children ages 2.5 to \<17 years with hypochondroplasia (HCH).
Summary: The purpose of this study is to evaluate the safety and efficacy of daily administration of vosoritide in participants with HCH aged 0 to \< 36 months over a 52-week period.
Published Date: May 29, 2023
Published By: National Institutes of Health