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Achondroplasia is a type of dwarfism caused by a problem with converting cartilage to bone. Associated health problems can include apnea, obesity, or recurrent ear infections. Individuals with achondroplasia generally have normal intelligence. It is the most common form of short-limbed dwarfism. Achondroplasia is a type of dwarfism caused by a problem with converting cartilage to bone. Associated health problems can include apnea, obesity, or recurrent ear infections. Individuals with achondroplasia generally have normal intelligence. It is the most common form of short-limbed dwarfism.
National Organization of Rare Disorders (NORD): Achondroplasia Provides information about rare diseases for patients and families through consultation with specialists of the disease. A summary reviews information about the disease including symptoms, causes, affected populations, related disorders, diagnosis, and treatment.
Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. This genetic disorder is caused by a change (mutation) in the fibroblast growth factor receptor 3 ( FGFR3) gene. Achondroplasia occurs as a result of a spontaneous genetic mutation in ...
BioMarin Pharmaceutical, a U.S.-based company, has been developing and testing a treatment for achondroplasia for years, STAT News reported in 2019. ... , New York, NY 10036. ...
Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. This genetic disorder is caused by a change (mutation) in the fibroblast growth factor receptor 3 ( FGFR3) gene. Achondroplasia occurs as a result of a spontaneous genetic mutation in ...
BioMarin plans to expand its clinical program for vosoritide, its treatment for achondroplasia. This expansion includes two new phase 2 trials, the first of which will evaluate vosoritide in infants at risk of foramen magnum compression. The second is investigator-initiated and will study this therapy’s effect on selected genetic forms of ...